#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
NOC2L	26155	broad.mit.edu	37	1	880925	880925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:880925C>T	ENST00000327044.6	-	17	2075	c.2026G>A	c.(2026-2028)Gac>Aac	p.D676N		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	676	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGGTGTCGTCCTCTTCAGAG	0.577																																						uc001abz.3		NaN																	0				ovary(1)|skin(1)	2						c.(2026-2028)GAC>AAC		nucleolar complex associated 2 homolog							116.0	108.0	111.0					1																	880925		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:880925C>T	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2026G>A	1.37:g.880925C>T	ENSP00000317992:p.Asp676Asn					NOC2L_uc001aby.3_Missense_Mutation_p.D473N|NOC2L_uc009vjq.2_Missense_Mutation_p.D676N	p.D676N	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	17	2085	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	676			Asp/Glu-rich (acidic).		Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.2026G>A	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355773	0.61293	.	.	ENSG00000188976	ENST00000327044	T	0.66638	-0.22	3.63	3.63	0.41609	Armadillo-type fold (1);	0.321128	0.28653	N	0.014583	T	0.62490	0.2432	L	0.54323	1.7	0.19775	N	0.99995	P;P;P	0.44429	0.704;0.835;0.704	B;B;B	0.40901	0.221;0.264;0.343	T	0.62267	-0.6890	10	0.66056	D	0.02	-8.5891	14.047	0.64710	0.0:1.0:0.0:0.0	.	676;676;443	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	N	676	ENSP00000317992:D676N	ENSP00000317992:D676N	D	-	1	0	NOC2L	870788	0.247000	0.23920	0.005000	0.12908	0.007000	0.05969	3.625000	0.54238	1.880000	0.54463	0.544000	0.68410	GAC		0.577	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1		NM_015658		21	51	0	0	0	0.012319	0	21	51		
TP73	7161	broad.mit.edu	37	1	3624302	3624302	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:3624302C>T	ENST00000378295.4	+	4	531	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	TP73_ENST00000357733.3_Missense_Mutation_p.H126Y|TP73_ENST00000378285.1_Missense_Mutation_p.H77Y|TP73_ENST00000354437.4_Missense_Mutation_p.H126Y|TP73_ENST00000378290.4_Missense_Mutation_p.H55Y|TP73_ENST00000604479.1_Missense_Mutation_p.H126Y|TP73_ENST00000603362.1_Missense_Mutation_p.H126Y|TP73_ENST00000378288.4_Missense_Mutation_p.H77Y|TP73_ENST00000346387.4_Missense_Mutation_p.H126Y|TP73_ENST00000378280.1_Missense_Mutation_p.H77Y|TP73_ENST00000604074.1_Missense_Mutation_p.H126Y	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	126					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGGACCCCACCACTTTGAGGT	0.667																																						uc001akp.2		NaN																	0				ovary(1)|lung(1)	2						c.(376-378)CAC>TAC		tumor protein p73 isoform a							58.0	53.0	55.0					1																	3624302		2203	4298	6501	SO:0001583	missense	7161				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3624302C>T	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.376C>T	1.37:g.3624302C>T	ENSP00000367545:p.His126Tyr					TP73_uc001akq.2_Missense_Mutation_p.H126Y|TP73_uc010nzj.1_Missense_Mutation_p.H77Y|TP73_uc001akr.2_Missense_Mutation_p.H77Y|TP73_uc009vlk.1_Missense_Mutation_p.H77Y|TP73_uc001aks.2_Missense_Mutation_p.H77Y|TP73_uc009vll.2_Missense_Mutation_p.H55Y|TP73_uc010nzk.1_Missense_Mutation_p.H55Y	p.H126Y	NM_005427	NP_005418	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	4	486	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	126					B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.376C>T	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647943	0.47258	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99751	-6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63	4.6	3.67	0.42095	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.514577	0.20951	N	0.082758	D	0.98682	0.9558	L	0.29908	0.895	0.30046	N	0.812208	P;P;P;P;P;P;P	0.49090	0.627;0.682;0.919;0.761;0.631;0.8;0.799	B;B;B;B;B;B;B	0.42882	0.262;0.33;0.401;0.222;0.222;0.205;0.351	D	0.97864	1.0282	10	0.72032	D	0.01	-33.1447	11.1989	0.48730	0.3329:0.667:0.0:0.0	.	77;55;77;77;77;126;126	B7Z8Z1;B7Z7J4;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;.;P73_HUMAN	Y	126;126;126;126;77;77;77;55	ENSP00000367545:H126Y;ENSP00000346423:H126Y;ENSP00000350366:H126Y;ENSP00000340740:H126Y;ENSP00000367537:H77Y;ENSP00000367534:H77Y;ENSP00000367529:H77Y;ENSP00000367539:H55Y	ENSP00000340740:H126Y	H	+	1	0	TP73	3614162	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.489000	0.45285	0.906000	0.36621	0.491000	0.48974	CAC		0.667	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4		NM_005427		16	59	0	0	0	0.00499	0	16	59		
TNFRSF25	8718	broad.mit.edu	37	1	6524508	6524508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:6524508G>A	ENST00000356876.3	-	5	556	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	TNFRSF25_ENST00000377782.3_Missense_Mutation_p.R157C|TNFRSF25_ENST00000351748.3_Intron|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.R112C|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.R157C	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	157					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GTATCTCTGCGGGAACCTGCA	0.607																																						uc001ane.2		NaN																	0				central_nervous_system(2)|breast(1)	3						c.(469-471)CGC>TGC		tumor necrosis factor receptor superfamily,							39.0	35.0	36.0					1																	6524508		2201	4300	6501	SO:0001583	missense	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6524508G>A	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.469C>T	1.37:g.6524508G>A	ENSP00000349341:p.Arg157Cys					TNFRSF25_uc001ana.2_Intron|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_Intron|TNFRSF25_uc001anf.2_Missense_Mutation_p.R157C|TNFRSF25_uc001ang.2_Missense_Mutation_p.R112C|TNFRSF25_uc001anh.2_Missense_Mutation_p.R157C|TNFRSF25_uc001ani.1_Missense_Mutation_p.R157C	p.R157C	NM_003790	NP_003781	Q93038	TNR25_HUMAN		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	5	557	-	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	157			TNFR-Cys 3.|Extracellular (Potential).		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	ENST00000356876.3	37	c.469C>T	CCDS71.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746384	0.49257	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000348333	D;D;D;D	0.92911	-2.99;-3.13;-3.07;-2.1	4.61	-9.22	0.00675	.	366.695000	0.00166	U	0.000000	D	0.88945	0.6575	L	0.27053	0.805	0.09310	N	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.997	P;P;P;B	0.53649	0.731;0.731;0.72;0.424	D	0.85769	0.1354	10	0.56958	D	0.05	-24.153	8.8024	0.34916	0.0:0.1742:0.369:0.4568	.	157;112;157;157	Q93038-11;Q93038-9;Q93038-10;Q93038	.;.;.;TNR25_HUMAN	C	157;157;157;112	ENSP00000349341:R157C;ENSP00000367013:R157C;ENSP00000337713:R157C;ENSP00000314451:R112C	ENSP00000314451:R112C	R	-	1	0	TNFRSF25	6447095	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.570000	0.02140	-2.342000	0.00624	-0.294000	0.09567	CGC		0.607	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1		NM_148965		11	6	0	0	0	0.013537	0	11	6		
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						uc001auk.2		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(250-252)TGC>TCC		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	447	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			XM_496341		4	356	0	0	0	0.014758	0	4	356		
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					uc001auk.2		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(244-246)CAT>CGT		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	441	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			XM_496341		5	358	0	0	0	0.001168	0	5	358		
PRDM2	7799	broad.mit.edu	37	1	14106203	14106203	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:14106203A>G	ENST00000235372.7	+	8	2769	c.1913A>G	c.(1912-1914)aAg>aGg	p.K638R	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K638R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K437R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.K437R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	638					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGGCCAAGAAGCGGAGAACT	0.473																																						uc001avi.2		NaN																	0				ovary(1)	1						c.(1912-1914)AAG>AGG		retinoblastoma protein-binding zinc finger							76.0	72.0	73.0					1																	14106203		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14106203A>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1913A>G	1.37:g.14106203A>G	ENSP00000235372:p.Lys638Arg					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.K638R|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.K395R|PRDM2_uc001avk.2_Missense_Mutation_p.K437R|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.K638R	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2769	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	638					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1913A>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	7.088	0.571625	0.13623	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02446	4.42;4.31;4.29;4.29	5.18	4.05	0.47172	.	0.052640	0.85682	N	0.000000	T	0.03348	0.0097	L	0.52266	1.64	0.44937	D	0.997957	P;B;P;P	0.42078	0.66;0.018;0.603;0.77	B;B;B;B	0.36959	0.119;0.007;0.089;0.237	T	0.57763	-0.7755	10	0.28530	T	0.3	.	10.0735	0.42347	0.9199:0.0:0.0801:0.0	.	638;496;638;638	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	R	638;638;638;437;437	ENSP00000235372:K638R;ENSP00000312352:K638R;ENSP00000411103:K437R;ENSP00000341621:K437R	ENSP00000235372:K638R	K	+	2	0	PRDM2	13978790	1.000000	0.71417	0.997000	0.53966	0.124000	0.20399	5.554000	0.67294	0.920000	0.36970	0.533000	0.62120	AAG		0.473	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231		7	29	0	0	0	0.001984	0	7	29		
EPHA2	1969	broad.mit.edu	37	1	16475491	16475491	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:16475491C>A	ENST00000358432.5	-	3	359	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	69	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACGTTGCACACGGAGTACATG	0.537																																						uc001aya.1		NaN																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(205-207)GTG>TTG		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						115.0	97.0	103.0					1																	16475491		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475491C>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.205G>T	1.37:g.16475491C>A	ENSP00000351209:p.Val69Leu					EPHA2_uc010oca.1_Missense_Mutation_p.V69L	p.V69L	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	342	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	69			Extracellular (Potential).		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.205G>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115161	0.94339	.	.	ENSG00000142627	ENST00000358432	T	0.04317	3.65	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.50627	D	0.000114	T	0.29256	0.0728	M	0.91249	3.19	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.79784	0.97;0.993	T	0.17745	-1.0359	10	0.87932	D	0	.	16.5455	0.84444	0.0:1.0:0.0:0.0	.	69;69	B5A968;P29317	.;EPHA2_HUMAN	L	69	ENSP00000351209:V69L	ENSP00000351209:V69L	V	-	1	0	EPHA2	16348078	0.999000	0.42202	0.998000	0.56505	0.990000	0.78478	4.013000	0.57138	2.503000	0.84419	0.561000	0.74099	GTG		0.537	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		NM_004431		44	42	1	0	2.55665e-31	0.01441	2.99182e-31	44	42		
RCC2	55920	broad.mit.edu	37	1	17738662	17738662	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:17738662C>T	ENST00000375436.4	-	11	1529	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	RCC2_ENST00000375433.3_Missense_Mutation_p.E448K|AC004824.1_ENST00000583469.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	448					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ATGGTGCTCTCATCGGCGGCC	0.622																																						uc001bal.2		NaN																	0					0						c.(1342-1344)GAG>AAG		regulator of chromosome condensation 2							75.0	66.0	69.0					1																	17738662		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17738662C>T		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1342G>A	1.37:g.17738662C>T	ENSP00000364585:p.Glu448Lys					RCC2_uc001bam.2_Missense_Mutation_p.E448K	p.E448K	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	10	1389	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	448			RCC1 7.		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.1342G>A	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443530	0.83993	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.79845	-1.31;-1.31	4.84	4.84	0.62591	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.048961	0.85682	D	0.000000	T	0.69548	0.3123	L	0.36672	1.1	0.80722	D	1	P	0.43094	0.799	B	0.32762	0.152	T	0.70865	-0.4756	10	0.27785	T	0.31	-43.4387	16.8745	0.86048	0.0:1.0:0.0:0.0	.	448	Q9P258	RCC2_HUMAN	K	448	ENSP00000364585:E448K;ENSP00000364582:E448K	ENSP00000364582:E448K	E	-	1	0	RCC2	17611249	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.749000	0.85096	2.388000	0.81334	0.655000	0.94253	GAG		0.622	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1		NM_018715		39	40	0	0	0	0.009718	0	39	40		
ACTL8	81569	broad.mit.edu	37	1	18152535	18152535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:18152535C>T	ENST00000375406.1	+	3	838	c.622C>T	c.(622-624)Cag>Tag	p.Q208*		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	208					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGCCGTGACTCAGATGAACAA	0.562											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bat.2		NaN																	0				ovary(4)	4						c.(622-624)CAG>TAG		actin-like 8							43.0	43.0	43.0					1																	18152535		2203	4300	6503	SO:0001587	stop_gained	81569					cytoplasm|cytoskeleton		g.chr1:18152535C>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.622C>T	1.37:g.18152535C>T	ENSP00000364555:p.Gln208*		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.Q208*	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	838	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	208					Q13104|Q96M75	Nonsense_Mutation	SNP	ENST00000375406.1	37	c.622C>T	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048531	0.93740	.	.	ENSG00000117148	ENST00000375406	.	.	.	5.25	4.21	0.49690	.	0.167587	0.28606	N	0.014759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-45.6448	10.1431	0.42747	0.3252:0.6748:0.0:0.0	.	.	.	.	X	208	.	ENSP00000364555:Q208X	Q	+	1	0	ACTL8	18025122	0.998000	0.40836	0.439000	0.26833	0.040000	0.13550	3.853000	0.55941	2.592000	0.87571	0.655000	0.94253	CAG		0.562	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1		NM_030812		32	17	0	0	0	0.009535	0	32	17		
TMCO4	255104	broad.mit.edu	37	1	20107204	20107204	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:20107204C>T	ENST00000294543.6	-	4	289	c.48G>A	c.(46-48)ctG>ctA	p.L16L	TMCO4_ENST00000375122.2_Silent_p.L16L|TMCO4_ENST00000375127.1_Silent_p.L16L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	16						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCTCAGCTACCAGAGGCTGCT	0.627																																						uc001bcn.2		NaN																	0					0						c.(46-48)CTG>CTA		transmembrane and coiled-coil domains 4							20.0	23.0	22.0					1																	20107204		2199	4299	6498	SO:0001819	synonymous_variant	255104					integral to membrane		g.chr1:20107204C>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.48G>A	1.37:g.20107204C>T						TMCO4_uc001bcm.2_Silent_p.L16L|TMCO4_uc001bco.1_Silent_p.L16L|TMCO4_uc001bcp.1_Silent_p.L16L|TMCO4_uc009vpn.1_Silent_p.L16L|TMCO4_uc001bcq.1_Silent_p.L16L	p.L16L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	4	290	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	16					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	c.48G>A	CCDS198.1																																																																																				0.627	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1		NM_181719		19	18	0	0	0	0.010504	0	19	18		
HSPG2	3339	broad.mit.edu	37	1	22165877	22165877	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:22165877G>A	ENST00000374695.3	-	73	9955	c.9876C>T	c.(9874-9876)atC>atT	p.I3292I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3292	Ig-like C2-type 18.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCACGTGCAGGATGATGGTGG	0.597																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(9874-9876)ATC>ATT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						63.0	60.0	61.0					1																	22165877		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22165877G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9876C>T	1.37:g.22165877G>A						HSPG2_uc009vqd.2_Silent_p.I3293I	p.I3292I	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	73	9916	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3292			Ig-like C2-type 18.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.9876C>T	CCDS30625.1																																																																																				0.597	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		32	24	0	0	0	0.015359	0	32	24		
ASAP3	55616	broad.mit.edu	37	1	23782407	23782407	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:23782407G>A	ENST00000336689.3	-	3	359	c.315C>T	c.(313-315)ttC>ttT	p.F105F	ASAP3_ENST00000449467.2_5'Flank|ASAP3_ENST00000437606.2_Silent_p.F105F	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	105					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCTCGCGGGTGAACACGGCCA	0.557																																						uc001bha.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(313-315)TTC>TTT		ArfGAP with SH3 domain, ankyrin repeat and PH							96.0	97.0	96.0					1																	23782407		2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23782407G>A	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.315C>T	1.37:g.23782407G>A						ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Silent_p.F105F|ASAP3_uc001bhc.1_Silent_p.F105F	p.F105F	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN			3	439	-			105					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.315C>T	CCDS235.1																																																																																				0.557	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2		NM_017707		93	46	0	0	0	0.01441	0	93	46		
LYPLA2	11313	broad.mit.edu	37	1	24124627	24124627	+	IGR	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:24124627C>G	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Missense_Mutation_p.G111R|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGGATGGTCCCGGTCAGGTTA	0.592																																						uc009vqo.1		NaN																	0					0						c.(331-333)GGG>CGG		UDP-galactose-4-epimerase							68.0	68.0	68.0					1																	24124627		2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24124627C>G	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124627C>G						GALE_uc001bhv.1_Missense_Mutation_p.G111R|GALE_uc001bhw.1_Missense_Mutation_p.G111R|GALE_uc001bhx.1_Missense_Mutation_p.G111R|GALE_uc009vqp.1_Missense_Mutation_p.G111R|GALE_uc001bhy.1_Missense_Mutation_p.G111R|GALE_uc001bhz.1_Missense_Mutation_p.G37R|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_3'UTR	p.G111R	NM_001127621	NP_001121093	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	4	541	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	111					Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	c.331G>C	CCDS241.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899986	0.92035	.	.	ENSG00000117308	ENST00000374498;ENST00000374497;ENST00000429356;ENST00000418277;ENST00000425913;ENST00000445705	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19	4.79	4.79	0.61399	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.056319	0.64402	D	0.000001	D	0.98257	0.9423	H	0.98786	4.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.999;0.999	D	0.99782	1.1028	10	0.87932	D	0	-22.3346	17.6236	0.88088	0.0:1.0:0.0:0.0	.	37;47;111;111	B3KQ39;E9PH43;Q38G75;Q14376	.;.;.;GALE_HUMAN	R	47;111;47;47;111;111	ENSP00000363621:G111R;ENSP00000398585:G47R;ENSP00000414719:G47R;ENSP00000393359:G111R;ENSP00000398257:G111R	ENSP00000363621:G111R	G	-	1	0	GALE	23997214	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.071000	0.76770	2.494000	0.84150	0.563000	0.77884	GGG		0.592	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1				10	109	0	0	0	0.010729	0	10	109		
NCMAP	400746	broad.mit.edu	37	1	24932122	24932122	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:24932122G>A	ENST00000374392.2	+	4	259	c.193G>A	c.(193-195)Gag>Aag	p.E65K	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1	Q5T1S8	NCMAP_HUMAN	noncompact myelin associated protein	65					peripheral nervous system myelin formation (GO:0032290)|positive regulation of myelination (GO:0031643)	integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|Schmidt-Lanterman incisure (GO:0043220)	structural constituent of myelin sheath (GO:0019911)										GCGGGAACTAGAGCCCAAGGG	0.587																																						uc001bjk.1		NaN																	0					0						c.(193-195)GAG>AAG		chromosome 1 open reading frame 130							75.0	66.0	69.0					1																	24932122		2203	4300	6503	SO:0001583	missense	400746					integral to membrane		g.chr1:24932122G>A	AK124519	CCDS30632.1	1p36.11	2012-07-31	2012-07-31	2012-07-31	ENSG00000184454	ENSG00000184454			29332	protein-coding gene	gene with protein product	"""myelin protein of 11 kDa"""		"""chromosome 1 open reading frame 130"""	C1orf130		18650334	Standard	NM_001010980		Approved	FLJ42528, MP11	uc001bjk.2	Q5T1S8	OTTHUMG00000003317	ENST00000374392.2:c.193G>A	1.37:g.24932122G>A	ENSP00000363513:p.Glu65Lys						p.E65K	NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)	4	259	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)	65					A0PK04|B2RV34	Missense_Mutation	SNP	ENST00000374392.2	37	c.193G>A	CCDS30632.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410988	0.96072	.	.	ENSG00000184454	ENST00000374392	.	.	.	5.71	5.71	0.89125	.	0.109676	0.64402	D	0.000009	T	0.67822	0.2934	L	0.36672	1.1	0.44523	D	0.997478	D	0.67145	0.996	D	0.77557	0.99	T	0.64402	-0.6416	9	0.39692	T	0.17	-24.8128	17.1386	0.86747	0.0:0.0:1.0:0.0	.	65	Q5T1S8	CA130_HUMAN	K	65	.	ENSP00000363513:E65K	E	+	1	0	C1orf130	24804709	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.263000	0.65507	2.861000	0.98227	0.650000	0.86243	GAG		0.587	NCMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009288.2		NM_001010980		51	29	0	0	0	0.01441	0	51	29		
AUNIP	79000	broad.mit.edu	37	1	26161564	26161564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:26161564C>T	ENST00000374298.3	-	3	1048	c.994G>A	c.(994-996)Ggg>Agg	p.G332R	AUNIP_ENST00000538789.1_Missense_Mutation_p.G332R|AUNIP_ENST00000481602.1_Intron|RP1-317E23.7_ENST00000606617.1_RNA	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	332	Interaction with AURKA.				spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											TGAGTTGGCCCATCCTCCTGG	0.443																																						uc001bkw.1		NaN																	0					0						c.(994-996)GGG>AGG		aurora A-binding protein							231.0	246.0	241.0					1																	26161564		2203	4300	6503	SO:0001583	missense	79000							g.chr1:26161564C>T		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.994G>A	1.37:g.26161564C>T	ENSP00000363416:p.Gly332Arg						p.G332R	NM_024037	NP_076942	Q9H7T9	CA135_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	3	994	-		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)	332					C9EI59|Q53F70	Missense_Mutation	SNP	ENST00000374298.3	37	c.994G>A	CCDS266.1	.	.	.	.	.	.	.	.	.	.	C	1.036	-0.680221	0.03353	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.41758	0.99;0.99	5.52	1.11	0.20524	.	0.474289	0.19539	N	0.111852	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.15235	-1.0444	10	0.31617	T	0.26	-1.5468	6.5583	0.22471	0.0:0.5274:0.0:0.4726	.	332	Q9H7T9	CA135_HUMAN	R	332	ENSP00000443647:G332R;ENSP00000363416:G332R	ENSP00000363416:G332R	G	-	1	0	C1orf135	26034151	0.000000	0.05858	0.022000	0.16811	0.074000	0.17049	0.080000	0.14802	0.357000	0.24183	-0.142000	0.14014	GGG		0.443	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2		NM_024037		35	492	0	0	0	0.017118	0	35	492		
LIN28A	79727	broad.mit.edu	37	1	26752761	26752761	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:26752761C>T	ENST00000326279.6	+	4	556	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	LIN28A_ENST00000254231.4_Missense_Mutation_p.H148Y	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	148					germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TCTAGATCATCATGCCAAGGA	0.527																																						uc001bmj.2		NaN																	0				central_nervous_system(1)	1						c.(442-444)CAT>TAT		lin-28 homolog							79.0	73.0	75.0					1																	26752761		2203	4300	6503	SO:0001583	missense	79727				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	g.chr1:26752761C>T	AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.442C>T	1.37:g.26752761C>T	ENSP00000363314:p.His148Tyr					LIN28A_uc001bmi.1_RNA	p.H148Y	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN			4	556	+			148			CCHC-type 1.			Missense_Mutation	SNP	ENST00000326279.6	37	c.442C>T	CCDS280.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798531	0.70567	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.42900	0.96;0.96	4.71	4.71	0.59529	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.000000	0.64402	D	0.000001	T	0.54415	0.1857	L	0.55103	1.725	0.33996	D	0.64977	D	0.67145	0.996	D	0.75484	0.986	T	0.54234	-0.8324	10	0.02654	T	1	.	16.8277	0.85935	0.0:1.0:0.0:0.0	.	148	Q9H9Z2	LN28A_HUMAN	Y	148	ENSP00000363314:H148Y;ENSP00000254231:H148Y	ENSP00000254231:H148Y	H	+	1	0	LIN28A	26625348	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.548000	0.82154	2.444000	0.82710	0.555000	0.69702	CAT		0.527	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2		NM_024674		21	65	0	0	0	0.01892	0	21	65		
SFN	2810	broad.mit.edu	37	1	27189796	27189796	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:27189796G>C	ENST00000339276.4	+	1	164	c.93G>C	c.(91-93)gaG>gaC	p.E31D		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GCGCCGTGGAGAAGGGCGAGG	0.607																																						uc001bnc.1		NaN																	0					0						c.(91-93)GAG>GAC		stratifin							52.0	54.0	53.0					1																	27189796		2203	4300	6503	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27189796G>C	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.93G>C	1.37:g.27189796G>C	ENSP00000340989:p.Glu31Asp					uc010ofi.1_RNA	p.E31D	NM_006142	NP_006133	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	164	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	31					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.93G>C	CCDS288.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466697	0.43839	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.48201	0.82	5.84	-7.9	0.01169	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.89534	3.04	0.24492	N	0.994295	B	0.23854	0.092	B	0.34590	0.186	T	0.54200	-0.8329	10	0.54805	T	0.06	-17.3593	22.7327	0.99975	0.1383:0.0:0.8617:0.0	.	31	P31947	1433S_HUMAN	D	31	ENSP00000340989:E31D	ENSP00000340989:E31D	E	+	3	2	SFN	27062383	0.980000	0.34600	0.717000	0.30585	0.508000	0.34012	0.188000	0.17018	-1.626000	0.01552	-0.302000	0.09304	GAG		0.607	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1		NM_006142		13	114	0	0	0	0.013537	0	13	114		
FAM46B	115572	broad.mit.edu	37	1	27332436	27332436	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:27332436C>G	ENST00000289166.5	-	2	1442	c.1277G>C	c.(1276-1278)tGa>tCa	p.*426S		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	0										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTCTGAGTCAGTTACAAGG	0.622																																						uc010ofj.1		NaN																	0				central_nervous_system(1)	1						c.(1276-1278)TGA>TCA		hypothetical protein LOC115572							58.0	60.0	60.0					1																	27332436		2203	4300	6503	SO:0001578	stop_lost	115572							g.chr1:27332436C>G	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.1277G>C	1.37:g.27332436C>G							p.*426S	NM_052943	NP_443175	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	1449	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	426						Nonstop_Mutation	SNP	ENST00000289166.5	37	c.1277G>C	CCDS294.2	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644014	0.29246	.	.	ENSG00000158246	ENST00000289166	.	.	.	5.44	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4531	0.44535	0.0:0.8529:0.0:0.1471	.	.	.	.	S	426	.	.	X	-	2	2	FAM46B	27205023	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	4.530000	0.60595	1.542000	0.49330	-0.142000	0.14014	TGA		0.622	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2		NM_052943		81	54	0	0	0	0.01441	0	81	54		
XKR8	55113	broad.mit.edu	37	1	28290197	28290197	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:28290197C>T	ENST00000373884.5	+	2	1091	c.483C>T	c.(481-483)taC>taT	p.Y161Y	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	161					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GGGCTGAGTACTACCAGTGTG	0.567																																						uc001bph.1		NaN																	0					0						c.(481-483)TAC>TAT		XK, Kell blood group complex subunit-related							17.0	14.0	15.0					1																	28290197		2196	4295	6491	SO:0001819	synonymous_variant	55113					integral to membrane		g.chr1:28290197C>T	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.483C>T	1.37:g.28290197C>T							p.Y161Y	NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	2	560	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	161			Helical; (Potential).			Silent	SNP	ENST00000373884.5	37	c.483C>T	CCDS315.1																																																																																				0.567	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1		NM_018053		12	4	0	0	0	0.010729	0	12	4		
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800272	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:28800272T>C	ENST00000373839.3	+	7	1291	c.1030T>C	c.(1030-1032)Tcc>Ccc	p.S344P	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.S354P	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACT	0.512																																						uc001bpw.2		NaN																	0					0						c.(1030-1032)TCC>CCC		phosphatase and actin regulator 4 isoform 1							180.0	188.0	186.0					1																	28800272		2060	4193	6253	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272T>C	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1030T>C	1.37:g.28800272T>C	ENSP00000362945:p.Ser344Pro					PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.S328P|PHACTR4_uc001bpy.2_Missense_Mutation_p.S354P	p.S344P	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1312	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1030T>C	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.000790	0.35320	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.29655	1.56;1.65	5.59	5.59	0.84812	.	0.109568	0.64402	D	0.000016	T	0.49474	0.1559	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.36016	-0.9765	10	0.25751	T	0.34	-5.3993	14.9383	0.70975	0.0:0.0:0.0:1.0	.	354;344	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	P	344;354;343	ENSP00000362945:S344P;ENSP00000362942:S354P	ENSP00000362942:S354P	S	+	1	0	PHACTR4	28672859	0.992000	0.36948	0.868000	0.34077	0.087000	0.18053	4.340000	0.59328	2.123000	0.65237	0.528000	0.53228	TCC		0.512	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4		NM_023923		4	301	0	0	0	0.014758	0	4	301		
YTHDF2	51441	broad.mit.edu	37	1	29095440	29095440	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:29095440G>A	ENST00000373812.3	+	5	2078		c.e5-1		YTHDF2_ENST00000542507.1_Splice_Site|YTHDF2_ENST00000478283.1_Splice_Site|YTHDF2_ENST00000541996.1_Splice_Site	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2						humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTCTGTAGGAACGTCAAG	0.328																																						uc001brc.2		NaN																	0				ovary(1)|skin(1)	2						c.e5-1		high glucose-regulated protein 8							63.0	58.0	60.0					1																	29095440		1820	4074	5894	SO:0001630	splice_region_variant	51441				humoral immune response			g.chr1:29095440G>A	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1717-1G>A	1.37:g.29095440G>A						YTHDF2_uc001brd.2_Splice_Site_p.E570_splice|YTHDF2_uc010ofx.1_Splice_Site_p.E523_splice|YTHDF2_uc001bre.2_Splice_Site_p.E523_splice	p.E573_splice	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	5	2214	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)						A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Splice_Site	SNP	ENST00000373812.3	37	c.1717_splice	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515892	0.64634	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.038	0.86481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YTHDF2	28968027	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.240000	0.72363	2.751000	0.94390	0.561000	0.74099	.		0.328	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1		NM_016258	Intron	5	20	0	0	0	0.001168	0	5	20		
CSMD2	114784	broad.mit.edu	37	1	34238233	34238233	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:34238233C>G	ENST00000338325.1	-	7	1019	c.607G>C	c.(607-609)Gga>Cga	p.G203R	CSMD2_ENST00000373381.4_Missense_Mutation_p.G595R			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	555	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTCTGTCCCACCAGCTCA	0.577																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(1663-1665)GGA>CGA		CUB and Sushi multiple domains 2							133.0	119.0	124.0					1																	34238233		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34238233C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.607G>C	1.37:g.34238233C>G	ENSP00000340311:p.Gly203Arg					CSMD2_uc001bxm.1_Missense_Mutation_p.G595R	p.G555R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			13	1692	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	555			Sushi 3.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37	c.1663G>C		.	.	.	.	.	.	.	.	.	.	C	34	5.383296	0.95967	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.72725	-0.68;-0.68	5.92	5.92	0.95590	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.95200	0.8316	10	0.87932	D	0	.	18.8845	0.92370	0.0:1.0:0.0:0.0	.	555;595	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	595;203	ENSP00000362479:G595R;ENSP00000340311:G203R	ENSP00000241312:G555R	G	-	1	0	CSMD2	34010820	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.796000	0.85898	2.813000	0.96785	0.561000	0.74099	GGA		0.577	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2		NM_052896		5	101	0	0	0	0.001168	0	5	101		
CAP1	10487	broad.mit.edu	37	1	40525754	40525754	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:40525754A>G	ENST00000372797.3	+	3	689	c.128A>G	c.(127-129)tAt>tGt	p.Y43C	CAP1_ENST00000372792.2_Missense_Mutation_p.Y43C|CAP1_ENST00000372798.1_Missense_Mutation_p.Y42C|CAP1_ENST00000340450.3_Missense_Mutation_p.Y42C|CAP1_ENST00000372805.3_Missense_Mutation_p.Y43C|CAP1_ENST00000372802.1_Missense_Mutation_p.Y42C	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	0					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGCTCCATATGTGCAGGCA	0.473																																						uc001cfa.3		NaN																	0				ovary(1)	1						c.(127-129)TAT>TGT		adenylyl cyclase-associated protein							111.0	111.0	111.0					1																	40525754		1992	4180	6172	SO:0001583	missense	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40525754A>G	L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.128A>G	1.37:g.40525754A>G	ENSP00000361883:p.Tyr43Cys					CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.Y43C|CAP1_uc001cez.3_Missense_Mutation_p.Y43C|CAP1_uc009vvz.2_Missense_Mutation_p.Y43C|CAP1_uc010oje.1_Missense_Mutation_p.M13V	p.Y43C	NM_006367	NP_006358	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		3	357	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	43					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000372797.3	37	c.128A>G	CCDS41309.1	.	.	.	.	.	.	.	.	.	.	A	7.031	0.560620	0.13498	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000449311;ENST00000421589;ENST00000414893;ENST00000414281;ENST00000420216;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000372794;ENST00000427843;ENST00000424977;ENST00000417287;ENST00000446031	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29397	2.79;2.79;2.79;2.79;1.57;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.47	2.91	0.33838	Adenylate cyclase-associated CAP, N-terminal (2);	0.283609	0.41294	D	0.000916	T	0.19485	0.0468	N	0.19112	0.55	0.54753	D	0.999985	B	0.17038	0.02	B	0.23852	0.049	T	0.04870	-1.0921	10	0.37606	T	0.19	-11.6344	9.8501	0.41051	0.7276:0.0:0.0:0.2724	.	43	Q01518	CAP1_HUMAN	C	43;42;43;43;43;43;43;43;20;42;42;43;42;43;43;43;43;43	ENSP00000361883:Y43C;ENSP00000361888:Y42C;ENSP00000398475:Y43C;ENSP00000403198:Y43C;ENSP00000398877:Y43C;ENSP00000408561:Y43C;ENSP00000410586:Y43C;ENSP00000361878:Y43C;ENSP00000361884:Y42C;ENSP00000344832:Y42C;ENSP00000361891:Y43C;ENSP00000412859:Y42C;ENSP00000413656:Y43C;ENSP00000413383:Y43C;ENSP00000400943:Y43C;ENSP00000389974:Y43C	ENSP00000344832:Y42C	Y	+	2	0	CAP1	40298341	0.980000	0.34600	0.525000	0.27900	0.133000	0.20885	1.816000	0.38992	0.959000	0.37980	0.455000	0.32223	TAT		0.473	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000013109.1		NM_006367		22	26	0	0	0	0.016522	0	22	26		
EFCAB14	9813	broad.mit.edu	37	1	47181986	47181986	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:47181986G>A	ENST00000371933.3	-	2	1291	c.315C>T	c.(313-315)ctC>ctT	p.L105L	EFCAB14_ENST00000544071.1_Silent_p.L105L	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	105							calcium ion binding (GO:0005509)										ATTTTTCCTTGAGGGCATCCA	0.443																																						uc001cqk.3		NaN																	0					0						c.(313-315)CTC>CTT		hypothetical protein LOC9813							70.0	65.0	67.0					1																	47181986		2203	4300	6503	SO:0001819	synonymous_variant	9813						calcium ion binding	g.chr1:47181986G>A	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.315C>T	1.37:g.47181986G>A						KIAA0494_uc010omh.1_Silent_p.L105L|KIAA0494_uc001cql.1_Silent_p.L105L	p.L105L	NM_014774	NP_055589	O75071	K0494_HUMAN			2	1292	-	Acute lymphoblastic leukemia(166;0.155)		105					D3DQ23|Q5SXB8	Silent	SNP	ENST00000371933.3	37	c.315C>T	CCDS30706.1																																																																																				0.443	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1		NM_014774		11	27	0	0	0	0.008291	0	11	27		
LEPR	3953	broad.mit.edu	37	1	66102578	66102578	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:66102578T>C	ENST00000349533.6	+	20	3563	c.3378T>C	c.(3376-3378)aaT>aaC	p.N1126N	LEPR_ENST00000406510.3_Silent_p.N193N	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTGTAGAAAATAATATCAACT	0.403																																						uc001dci.2		NaN																	0				skin(1)	1						c.(3376-3378)AAT>AAC		leptin receptor isoform 1							70.0	69.0	69.0					1																	66102578		2203	4300	6503	SO:0001819	synonymous_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102578T>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3378T>C	1.37:g.66102578T>C						LEPR_uc009waq.2_3'UTR	p.N1126N	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3580	+			1126			Cytoplasmic (Potential).		Q6FHL5	Silent	SNP	ENST00000349533.6	37	c.3378T>C	CCDS631.1																																																																																				0.403	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1		NM_002303		5	22	0	0	0	0.001168	0	5	22		
ANKRD34A	284615	broad.mit.edu	37	1	145474162	145474162	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:145474162G>T	ENST00000323397.4	+	4	2127	c.834G>T	c.(832-834)ctG>ctT	p.L278L	RP11-315I20.1_ENST00000600340.1_RNA|LIX1L_ENST00000369308.3_5'Flank	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	278	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCAATGGCCTGACCCTGACCG	0.652																																						uc001enq.1		NaN																	0					0						c.(832-834)CTG>CTT		ankyrin repeat domain 34							36.0	40.0	39.0					1																	145474162		2203	4300	6503	SO:0001819	synonymous_variant	284615							g.chr1:145474162G>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.834G>T	1.37:g.145474162G>T						NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	p.L278L	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	2127	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		278			Pro-rich.		B3KSU3	Silent	SNP	ENST00000323397.4	37	c.834G>T	CCDS30829.1																																																																																				0.652	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1				22	41	1	0	7.41877e-09	0.012319	8.30601e-09	22	41		
UBAP2L	9898	broad.mit.edu	37	1	154224128	154224128	+	Splice_Site	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:154224128A>G	ENST00000361546.2	+	13	1705	c.1663A>G	c.(1663-1665)Agt>Ggt	p.S555G	UBAP2L_ENST00000343815.6_Splice_Site_p.S555G|UBAP2L_ENST00000428931.1_Splice_Site_p.S555G|UBAP2L_ENST00000271877.7_Splice_Site_p.S566G|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	555					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.S555G(2)|p.S51G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCACGGCCAGGTAGAGGAA	0.493																																						uc001fep.3		NaN																	3	Substitution - Missense(3)		endometrium(3)	ovary(1)|central_nervous_system(1)	2						c.(1663-1665)AGT>GGT		ubiquitin associated protein 2-like isoform a							66.0	69.0	68.0					1																	154224128		2203	4300	6503	SO:0001630	splice_region_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154224128A>G	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1664+1A>G	1.37:g.154224128A>G						UBAP2L_uc009wot.2_Missense_Mutation_p.S555G|UBAP2L_uc010pek.1_Missense_Mutation_p.S547G|UBAP2L_uc010pel.1_Missense_Mutation_p.S565G|UBAP2L_uc010pen.1_Missense_Mutation_p.S469G	p.S555G	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		14	1830	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		555					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.1663A>G	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488257	0.64074	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.13538	2.58;2.6;2.59;2.6	4.85	4.85	0.62838	.	0.052803	0.64402	D	0.000001	T	0.18341	0.0440	L	0.54323	1.7	0.47276	D	0.999373	P;B;P;P;P	0.46395	0.805;0.426;0.877;0.877;0.805	P;B;P;P;P	0.57776	0.483;0.098;0.682;0.682;0.827	T	0.00440	-1.1738	10	0.42905	T	0.14	-0.6961	14.1085	0.65107	1.0:0.0:0.0:0.0	.	469;566;548;555;555	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	G	555;555;51;51;566;555	ENSP00000345308:S555G;ENSP00000389445:S555G;ENSP00000271877:S566G;ENSP00000355343:S555G	ENSP00000271877:S566G	S	+	1	0	UBAP2L	152490752	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.303000	0.89955	2.176000	0.68965	0.529000	0.55759	AGT		0.493	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1		NM_014847	Missense_Mutation	31	225	0	0	0	0.010818	0	31	225		
LMNA	4000	broad.mit.edu	37	1	156100457	156100457	+	Missense_Mutation	SNP	G	G	A	rs267607619		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:156100457G>A	ENST00000368300.4	+	2	618	c.406G>A	c.(406-408)Gac>Aac	p.D136N	LMNA_ENST00000473598.2_Missense_Mutation_p.D37N|LMNA_ENST00000347559.2_Missense_Mutation_p.D136N|LMNA_ENST00000448611.2_Missense_Mutation_p.D24N|LMNA_ENST00000392353.3_Missense_Mutation_p.D55N|LMNA_ENST00000368297.1_Missense_Mutation_p.D55N|LMNA_ENST00000368301.2_Missense_Mutation_p.D136N|LMNA_ENST00000361308.4_Missense_Mutation_p.D136N|LMNA_ENST00000368299.3_Missense_Mutation_p.D136N	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	136	Coil 1B.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TCGGCTGAAGGACCTGGAGGC	0.572									Werner syndrome;Hutchinson-Gilford Progeria Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fni.2		NaN																	0				ovary(2)	2						c.(406-408)GAC>AAC		lamin A/C isoform 1 precursor							42.0	41.0	41.0					1																	156100457		2203	4300	6503	SO:0001583	missense	4000	Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity	g.chr1:156100457G>A	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.406G>A	1.37:g.156100457G>A	ENSP00000357283:p.Asp136Asn		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1775	LMNA_uc001fnf.1_Missense_Mutation_p.D136N|LMNA_uc001fng.2_Missense_Mutation_p.D136N|LMNA_uc001fnh.2_Missense_Mutation_p.D136N|LMNA_uc009wro.1_Missense_Mutation_p.D136N|LMNA_uc010pgz.1_Missense_Mutation_p.D24N|LMNA_uc001fnj.2_Missense_Mutation_p.D55N|LMNA_uc001fnk.2_Missense_Mutation_p.D37N	p.D136N	NM_170707	NP_733821	P02545	LMNA_HUMAN			2	655	+	Hepatocellular(266;0.158)		136			Coil 1B.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.406G>A	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209970	0.95069	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000504687;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D;D	0.86297	-2.1;-1.66;-2.1;-2.1;-2.1;-1.66;-1.66;-1.66;-1.66;-1.66	5.59	5.59	0.84812	Filament (1);	0.000000	0.64402	D	0.000011	D	0.88607	0.6482	L	0.41236	1.265	0.80722	D	1	D;B;B;B;B;P;B	0.76494	0.999;0.048;0.41;0.182;0.048;0.485;0.176	D;B;B;B;B;B;B	0.79108	0.992;0.048;0.348;0.241;0.086;0.395;0.091	D	0.87261	0.2279	10	0.36615	T	0.2	.	17.0835	0.86604	0.0:0.0:1.0:0.0	.	24;136;37;55;136;136;136	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	N	136;136;136;136;136;136;136;24;55;53;37;55	ENSP00000357284:D136N;ENSP00000292304:D136N;ENSP00000355292:D136N;ENSP00000357283:D136N;ENSP00000357282:D136N;ENSP00000395597:D24N;ENSP00000357280:D55N;ENSP00000426535:D53N;ENSP00000421821:D37N;ENSP00000376164:D55N	ENSP00000292302:D136N	D	+	1	0	LMNA	154367081	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.843000	0.99491	2.635000	0.89317	0.655000	0.94253	GAC		0.572	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2		NM_170707		72	28	0	0	0	0.01441	0	72	28		
PRCC	5546	broad.mit.edu	37	1	156756616	156756616	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:156756616A>G	ENST00000271526.4	+	3	1005	c.733A>G	c.(733-735)Atc>Gtc	p.I245V	PRCC_ENST00000353233.3_Missense_Mutation_p.I245V|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	245					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCTCTGCTATCAAGGCTGC	0.552			T	TFE3	papillary renal																																	uc001fqa.2		NaN		Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal 	PRCC/TFE3(25)	0				kidney(25)|central_nervous_system(2)	27						c.(733-735)ATC>GTC		papillary renal cell carcinoma							55.0	53.0	54.0					1																	156756616		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156756616A>G	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.733A>G	1.37:g.156756616A>G	ENSP00000271526:p.Ile245Val					PRCC_uc001fqb.2_Missense_Mutation_p.I245V	p.I245V	NM_005973	NP_005964	Q92733	PRCC_HUMAN			3	1023	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		245					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.733A>G	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303321	0.81136	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201	T;T	0.44881	0.91;0.91	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	L	0.32530	0.975	0.80722	D	1	D;D	0.64830	0.963;0.994	D;D	0.72625	0.93;0.978	T	0.18935	-1.0321	10	0.19147	T	0.46	-4.293	14.7433	0.69472	1.0:0.0:0.0:0.0	.	245;245	A6NG79;Q92733	.;PRCC_HUMAN	V	245;245;189	ENSP00000271526:I245V;ENSP00000339300:I245V	ENSP00000271526:I245V	I	+	1	0	PRCC	155023240	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.879000	0.92398	2.158000	0.67659	0.533000	0.62120	ATC		0.552	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2		NM_005973		9	23	0	0	0	0.010729	0	9	23		
FCGR3A	2214	broad.mit.edu	37	1	161512834	161512834	+	Missense_Mutation	SNP	A	A	G	rs1042208		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:161512834A>G	ENST00000436743.1	-	6	887	c.733T>C	c.(733-735)Ttt>Ctt	p.F245L	FCGR3A_ENST00000540048.1_Missense_Mutation_p.F245L|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000443193.1_Missense_Mutation_p.F280L|FCGR3A_ENST00000367969.3_Missense_Mutation_p.F281L	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	245					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F281L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCATTTAAATTTATGGTCC	0.443																																						uc001gat.3		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(1)	1						c.(733-735)TTT>CTT		Fc fragment of IgG, low affinity IIIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						140.0	136.0	138.0					1																	161512834		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161512834A>G	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.733T>C	1.37:g.161512834A>G	ENSP00000416607:p.Phe245Leu					FCGR3A_uc001gar.2_Missense_Mutation_p.F281L|FCGR3A_uc001gas.2_Missense_Mutation_p.F280L|FCGR3A_uc009wuh.2_Missense_Mutation_p.F244L|FCGR3A_uc009wui.2_Missense_Mutation_p.F245L	p.F245L	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	870	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		245			Cytoplasmic (Potential).		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.733T>C	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773933	0.31411	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	T;T;T;T;T	0.01369	4.97;4.98;5.06;5.06;5.06	4.54	-2.82	0.05787	.	.	.	.	.	T	0.00300	0.0009	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.43653	-0.9378	9	0.15499	T	0.54	.	1.2657	0.02010	0.1702:0.3738:0.2487:0.2073	rs1042208;rs3171042	245;280	P08637;E9PG94	FCG3A_HUMAN;.	L	281;280;245;245;245	ENSP00000356946:F281L;ENSP00000392047:F280L;ENSP00000416607:F245L;ENSP00000356944:F245L;ENSP00000444971:F245L	ENSP00000356944:F245L	F	-	1	0	FCGR3A	159779458	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-2.668000	0.00845	-0.377000	0.07930	0.482000	0.46254	TTT		0.443	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2		NM_000569		4	205	0	0	0	0.010729	0	4	205		
DCAF6	55827	broad.mit.edu	37	1	167906233	167906233	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:167906233G>A	ENST00000312263.6	+	1	288	c.84G>A	c.(82-84)cgG>cgA	p.R28R	DCAF6_ENST00000367840.3_Silent_p.R28R|DCAF6_ENST00000470919.1_Intron|DCAF6_ENST00000432587.2_Silent_p.R28R|DCAF6_ENST00000367843.3_Silent_p.R28R|MPC2_ENST00000367846.4_5'Flank|MPC2_ENST00000271373.4_5'UTR	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	28					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CCCGGCTGCGGAGTCGATACC	0.711																																						uc001gew.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(82-84)CGG>CGA		IQ motif and WD repeats 1 isoform b							19.0	19.0	19.0					1																	167906233		2198	4297	6495	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167906233G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.84G>A	1.37:g.167906233G>A						BRP44_uc001ges.2_5'Flank|BRP44_uc001get.2_5'UTR|BRP44_uc001geu.2_Intron|BRP44_uc009wvn.2_5'Flank|DCAF6_uc001gev.2_Silent_p.R28R|DCAF6_uc001gex.2_Silent_p.R28R|DCAF6_uc010plk.1_Silent_p.R28R	p.R28R	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			1	326	+			28					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.84G>A	CCDS30933.1																																																																																				0.711	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2		NM_018442		11	17	0	0	0	0.020292	0	11	17		
F5	2153	broad.mit.edu	37	1	169519105	169519105	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:169519105G>A	ENST00000367797.3	-	10	1746	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	F5_ENST00000367796.3_Silent_p.I515I|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	515	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GCCCAGAGGCGATGTCTCTCA	0.423																																						uc001ggg.1		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(1543-1545)ATC>ATT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						194.0	175.0	181.0					1																	169519105		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519105G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1545C>T	1.37:g.169519105G>A						F5_uc010plr.1_RNA	p.I515I	NM_000130	NP_000121	P12259	FA5_HUMAN			10	1690	-	all_hematologic(923;0.208)		515			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.1545C>T	CCDS1281.1																																																																																				0.423	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130		9	48	0	0	0	0.008291	0	9	48		
SCYL3	57147	broad.mit.edu	37	1	169845137	169845137	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:169845137A>C	ENST00000367770.1	-	3	494	c.447T>G	c.(445-447)gtT>gtG	p.V149V	SCYL3_ENST00000367772.4_Silent_p.V149V|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Silent_p.V149V			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCCTGAGAAACTTTACAAA	0.463																																						uc001ggs.2		NaN																	0				ovary(1)|skin(1)	2						c.(445-447)GTT>GTG		SCY1-like 3 isoform 2							126.0	112.0	117.0					1																	169845137		2203	4300	6503	SO:0001819	synonymous_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169845137A>C	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.447T>G	1.37:g.169845137A>C						SCYL3_uc001ggt.2_Silent_p.V149V|SCYL3_uc001ggu.2_RNA	p.V149V	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN			4	645	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		149			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	ENST00000367770.1	37	c.447T>G	CCDS1287.1																																																																																				0.463	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4		NM_181093		3	41	0	0	0	0.009096	0	3	41		
RASAL2	9462	broad.mit.edu	37	1	178269155	178269155	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:178269155A>G	ENST00000367649.3	+	3	711	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000448150.3_Missense_Mutation_p.Q102R			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGGAGCAGCAGACAGATTCC	0.478											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001glq.2		NaN																	0		p.E120*(1)		ovary(2)|breast(2)|large_intestine(1)	5						c.(358-360)CAG>CGG		RAS protein activator like 2 isoform 2							73.0	77.0	76.0					1																	178269155		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178269155A>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.359A>G	1.37:g.178269155A>G	ENSP00000356621:p.Gln120Arg		OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1945	RASAL2_uc009wxb.2_Missense_Mutation_p.Q120R	p.Q120R	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN			3	1123	+			Error:Variant_position_missing_in_Q9UJF2_after_alignment					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000367649.3	37	c.359A>G	CCDS1321.2	.	.	.	.	.	.	.	.	.	.	A	1.905	-0.452208	0.04540	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.30182	1.54;1.54	5.37	5.37	0.77165	.	0.390997	0.23604	N	0.046411	T	0.11110	0.0271	N	0.03324	-0.35	0.29799	N	0.832566	B	0.29037	0.231	B	0.24155	0.051	T	0.16571	-1.0398	10	0.02654	T	1	.	10.3075	0.43689	0.7219:0.2781:0.0:0.0	.	120	F8W755	.	R	102;120	ENSP00000407768:Q102R;ENSP00000356621:Q120R	ENSP00000356621:Q120R	Q	+	2	0	RASAL2	176535778	0.991000	0.36638	0.991000	0.47740	0.628000	0.37860	1.889000	0.39718	2.164000	0.68074	0.533000	0.62120	CAG		0.478	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1		NM_170692		23	29	0	0	0	0.016522	0	23	29		
KIF21B	23046	broad.mit.edu	37	1	200954055	200954055	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:200954055C>T	ENST00000422435.2	-	27	4051	c.3735G>A	c.(3733-3735)cgG>cgA	p.R1245R	KIF21B_ENST00000332129.2_Silent_p.R1245R|KIF21B_ENST00000461742.2_Silent_p.R1245R|KIF21B_ENST00000360529.5_Silent_p.R1245R	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1245					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CATTGCGGGGCCGAGTGGGAG	0.627																																						uc001gvs.1		NaN																	0				ovary(3)|skin(3)	6						c.(3733-3735)CGG>CGA		kinesin family member 21B							92.0	85.0	88.0					1																	200954055		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200954055C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3735G>A	1.37:g.200954055C>T						KIF21B_uc001gvr.1_Silent_p.R1245R|KIF21B_uc009wzl.1_Silent_p.R1245R|KIF21B_uc010ppn.1_Silent_p.R1245R	p.R1245R	NM_017596	NP_060066	O75037	KI21B_HUMAN			27	4052	-			1245					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.3735G>A	CCDS58056.1																																																																																				0.627	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1		XM_371332		20	41	0	0	0	0.010504	0	20	41		
NAV1	89796	broad.mit.edu	37	1	201779122	201779122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:201779122G>C	ENST00000367296.4	+	23	4870	c.4450G>C	c.(4450-4452)Gag>Cag	p.E1484Q	NAV1_ENST00000367300.3_Missense_Mutation_p.E1424Q|NAV1_ENST00000367295.1_Missense_Mutation_p.E1090Q|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.E1437Q|NAV1_ENST00000367297.4_Missense_Mutation_p.E1476Q|NAV1_ENST00000295624.6_Missense_Mutation_p.E1481Q|MIR1231_ENST00000408101.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1484					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ACTAAGCACTGAGTCCATCCA	0.478																																						uc001gwu.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(4441-4443)GAG>CAG		neuron navigator 1							99.0	88.0	92.0					1																	201779122		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779122G>C	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4450G>C	1.37:g.201779122G>C	ENSP00000356265:p.Glu1484Gln					NAV1_uc001gwx.2_Missense_Mutation_p.E1090Q	p.E1481Q	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			22	4788	+			1484					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.4441G>C	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	34	5.409200	0.96072	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.07908	3.16;3.15;3.15;3.15;3.16;3.16	5.38	5.38	0.77491	.	0.162086	0.53938	D	0.000050	T	0.19525	0.0469	L	0.52573	1.65	0.58432	D	0.999999	D;D	0.56521	0.976;0.976	P;P	0.54140	0.743;0.743	T	0.00131	-1.2013	10	0.72032	D	0.01	-35.9438	18.7379	0.91763	0.0:0.0:1.0:0.0	.	1090;1481	Q8NEY1-5;Q8NEY1-3	.;.	Q	1437;1484;1481;1476;1424;1090	ENSP00000356271:E1437Q;ENSP00000356265:E1484Q;ENSP00000295624:E1481Q;ENSP00000356266:E1476Q;ENSP00000356269:E1424Q;ENSP00000356264:E1090Q	ENSP00000295624:E1481Q	E	+	1	0	NAV1	200045745	1.000000	0.71417	0.953000	0.39169	0.958000	0.62258	9.797000	0.99108	2.498000	0.84270	0.561000	0.74099	GAG		0.478	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1		NM_020443		25	43	0	0	0	0.021523	0	25	43		
TIMM17A	10440	broad.mit.edu	37	1	201932815	201932815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:201932815G>A	ENST00000367287.4	+	4	298	c.262G>A	c.(262-264)Gat>Aat	p.D88N	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	88					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|lung(3)|stomach(1)	5						AGGAAAGGAAGATCCCTGGAA	0.418																																						uc001gxc.2		NaN																	0					0						c.(262-264)GAT>AAT		translocase of inner mitochondrial membrane 17							93.0	86.0	89.0					1																	201932815		2203	4300	6503	SO:0001583	missense	10440				protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr1:201932815G>A	AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.262G>A	1.37:g.201932815G>A	ENSP00000356256:p.Asp88Asn						p.D88N	NM_006335	NP_006326	Q99595	TI17A_HUMAN			4	298	+			88					B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	c.262G>A	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	G	36	5.781024	0.96929	.	.	ENSG00000134375	ENST00000367287	T	0.43688	0.94	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	H	0.96111	3.77	0.80722	D	1	D	0.54207	0.965	P	0.60173	0.87	T	0.82494	-0.0429	10	0.87932	D	0	-7.8495	16.9095	0.86137	0.0:0.0:1.0:0.0	.	88	Q99595	TI17A_HUMAN	N	88	ENSP00000356256:D88N	ENSP00000356256:D88N	D	+	1	0	TIMM17A	200199438	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.416000	0.97383	2.661000	0.90470	0.655000	0.94253	GAT		0.418	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1		NM_006335		18	20	0	0	0	0.00499	0	18	20		
CNIH3	149111	broad.mit.edu	37	1	224922305	224922305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:224922305G>A	ENST00000272133.3	+	5	1234	c.352G>A	c.(352-354)Gac>Aac	p.D118N		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	118					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		ACTAGCCTACGACCCACCGGT	0.517																																						uc001hos.1		NaN																	0					0						c.(352-354)GAC>AAC		cornichon homolog 3							173.0	135.0	148.0					1																	224922305		2203	4300	6503	SO:0001583	missense	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224922305G>A	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.352G>A	1.37:g.224922305G>A	ENSP00000272133:p.Asp118Asn						p.D118N	NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	5	1050	+	Breast(184;0.218)		118			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000272133.3	37	c.352G>A	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093155	0.94149	.	.	ENSG00000143786	ENST00000272133	T	0.56444	0.46	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.82414	-0.0469	10	0.87932	D	0	-7.0652	18.6377	0.91384	0.0:0.0:1.0:0.0	.	118	Q8TBE1	CNIH3_HUMAN	N	118	ENSP00000272133:D118N	ENSP00000272133:D118N	D	+	1	0	CNIH3	222988928	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	9.869000	0.99810	2.409000	0.81822	0.462000	0.41574	GAC		0.517	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2		NM_152495		29	41	0	0	0	0.008361	0	29	41		
SDE2	163859	broad.mit.edu	37	1	226175920	226175920	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:226175920C>T	ENST00000272091.7	-	6	829	c.811G>A	c.(811-813)Gta>Ata	p.V271I		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	271																	GTATTCACTACTCTCGCCCTC	0.502																																						uc001hpu.3		NaN																	0				lung(1)	1						c.(811-813)GTA>ATA		hypothetical protein LOC163859							197.0	187.0	190.0					1																	226175920		1979	4164	6143	SO:0001583	missense	163859							g.chr1:226175920C>T	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.811G>A	1.37:g.226175920C>T	ENSP00000272091:p.Val271Ile					C1orf55_uc001hpv.2_Missense_Mutation_p.V271I	p.V271I	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			6	864	-	Breast(184;0.197)		271					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.811G>A	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781989	0.49891	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.44482	0.96;0.92	5.61	2.71	0.32032	.	1.244050	0.05442	N	0.547894	T	0.37100	0.0991	L	0.56769	1.78	0.09310	N	1	B;B	0.33583	0.418;0.139	B;B	0.27796	0.083;0.026	T	0.22452	-1.0216	10	0.33141	T	0.24	-0.0786	5.8709	0.18802	0.0:0.6368:0.1393:0.2239	.	259;271	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	I	271;259;176	ENSP00000272091:V271I;ENSP00000355782:V176I	ENSP00000272091:V271I	V	-	1	0	C1orf55	224242543	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	0.132000	0.15891	0.313000	0.23062	0.650000	0.86243	GTA		0.502	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1		NM_152608		22	159	0	0	0	0.004656	0	22	159		
ADCK3	56997	broad.mit.edu	37	1	227152913	227152913	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:227152913C>T	ENST00000366779.1	+	8	3161	c.390C>T	c.(388-390)ttC>ttT	p.F130F	ADCK3_ENST00000366778.1_Silent_p.F78F|ADCK3_ENST00000366777.3_Silent_p.F130F|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	130					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AAGCCGGGTTCCCCGGCCAGG	0.657																																						uc001hqm.1		NaN																	0					0						c.(388-390)TTC>TTT		chaperone, ABC1 activity of bc1 complex like							27.0	31.0	29.0					1																	227152913		2203	4300	6503	SO:0001819	synonymous_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227152913C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.390C>T	1.37:g.227152913C>T						CABC1_uc010pvp.1_Silent_p.F93F|CABC1_uc001hqn.1_Silent_p.F130F|CABC1_uc009xeq.1_Silent_p.F78F|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	p.F130F	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			8	3809	+		Prostate(94;0.0771)	130					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	c.390C>T	CCDS1557.1																																																																																				0.657	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1		NM_020247		16	28	0	0	0	0.00499	0	16	28		
PLD5	200150	broad.mit.edu	37	1	242383325	242383325	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:242383325C>A	ENST00000536534.2	-	5	941	c.700G>T	c.(700-702)Ggc>Tgc	p.G234C	PLD5_ENST00000427495.1_Missense_Mutation_p.G172C|PLD5_ENST00000442594.2_Missense_Mutation_p.G142C			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	234	PLD phosphodiesterase 1.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.G234C(1)|p.G142C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCGGCACTGCCGATATACACG	0.517																																						uc001hzn.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(700-702)GGC>TGC		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							122.0	104.0	110.0					1																	242383325		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242383325C>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.700G>T	1.37:g.242383325C>A	ENSP00000440896:p.Gly234Cys					PLD5_uc001hzl.3_Missense_Mutation_p.G172C|PLD5_uc001hzm.3_Missense_Mutation_p.G24C|PLD5_uc001hzo.1_Missense_Mutation_p.G142C	p.G234C			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	827	-	Melanoma(84;0.242)		234			PLD phosphodiesterase 1.		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.700G>T	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639913	0.87760	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.53640	0.61;0.61;0.61	5.58	5.58	0.84498	Phospholipase D/Transphosphatidylase (1);	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.988;0.991	T	0.83310	-0.0023	10	0.87932	D	0	-12.8691	15.0715	0.72040	0.0:1.0:0.0:0.0	.	142;234;172	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	C	172;142;234	ENSP00000401285:G172C;ENSP00000414188:G142C;ENSP00000440896:G234C	ENSP00000401285:G172C	G	-	1	0	PLD5	240449948	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.510000	0.73729	2.626000	0.88956	0.655000	0.94253	GGC		0.517	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2		NM_152666		15	25	1	0	4.7546e-09	0.004007	5.35045e-09	15	25		
OR2L8	391190	broad.mit.edu	37	1	248112660	248112660	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:248112660T>C	ENST00000357191.3	+	1	501	c.501T>C	c.(499-501)taT>taC	p.Y167Y	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATATTCCTTATTGCCGATCCA	0.473																																						uc001idt.1		NaN																	0				ovary(1)|skin(1)	2						c.(499-501)TAT>TAC		olfactory receptor, family 2, subfamily L,							224.0	148.0	174.0					1																	248112660		2203	4300	6503	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112660T>C	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.501T>C	1.37:g.248112660T>C						OR2L13_uc001ids.2_Intron	p.Y167Y	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	501	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		167			Extracellular (Potential).		Q6IF03	Silent	SNP	ENST00000357191.3	37	c.501T>C	CCDS31101.1																																																																																				0.473	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2				26	92	0	0	0	0.007291	0	26	92		
OR2L3	391192	broad.mit.edu	37	1	248224484	248224484	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:248224484T>C	ENST00000359959.3	+	1	501	c.501T>C	c.(499-501)taT>taC	p.Y167Y	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATATTCCTTATTGCCAATCCA	0.463																																						uc001idx.1		NaN																	0					0						c.(499-501)TAT>TAC		olfactory receptor, family 2, subfamily L,							126.0	169.0	154.0					1																	248224484		2202	4299	6501	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224484T>C	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.501T>C	1.37:g.248224484T>C						OR2L13_uc001ids.2_Intron	p.Y167Y	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	501	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		167			Extracellular (Potential).		B9EH44	Silent	SNP	ENST00000359959.3	37	c.501T>C	CCDS31104.1																																																																																				0.463	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1		NM_001004687		9	61	0	0	0	0.00499	0	9	61		
ARHGAP21	57584	broad.mit.edu	37	10	24880173	24880173	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:24880173G>A	ENST00000396432.2	-	24	4617	c.4131C>T	c.(4129-4131)gtC>gtT	p.V1377V	ARHGAP21_ENST00000320481.6_Silent_p.V1164V	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1376					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTCCTGGGGAGACTCCTGTCC	0.438																																						uc001isb.2		NaN																	0				ovary(7)|pancreas(1)	8						c.(4129-4131)GTC>GTT		Rho GTPase activating protein 21							161.0	157.0	159.0					10																	24880173		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24880173G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4131C>T	10.37:g.24880173G>A						ARHGAP21_uc010qdb.1_RNA	p.V1377V	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			24	4618	-			1376					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.4131C>T	CCDS7144.2																																																																																				0.438	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4		NM_020824		75	84	0	0	0	0.01441	0	75	84		
LRRTM3	347731	broad.mit.edu	37	10	68688007	68688007	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:68688007T>C	ENST00000361320.4	+	2	1911	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	445					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ATGGAAGCGGTACCCTGCGAG	0.552																																						uc001jmz.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1333-1335)TAC>CAC		leucine rich repeat transmembrane neuronal 3							90.0	89.0	89.0					10																	68688007		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68688007T>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1333T>C	10.37:g.68688007T>C	ENSP00000355187:p.Tyr445His					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.Y445H	p.Y445H	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1883	+			445			Cytoplasmic (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1333T>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144741	0.57044	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.76578	-1.03	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000008	D	0.87597	0.6217	M	0.73598	2.24	0.50313	D	0.999868	D;D	0.71674	0.992;0.998	D;D	0.75484	0.934;0.986	D	0.88326	0.2965	10	0.59425	D	0.04	.	15.5953	0.76574	0.0:0.0:0.0:1.0	.	445;445	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	445	ENSP00000355187:Y445H	ENSP00000355187:Y445H	Y	+	1	0	LRRTM3	68358013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.322000	0.78497	0.528000	0.53228	TAC		0.552	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2		NM_178011		18	57	0	0	0	0.007413	0	18	57		
CDHR1	92211	broad.mit.edu	37	10	85973933	85973933	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:85973933C>T	ENST00000372117.3	+	17	2239	c.2136C>T	c.(2134-2136)gtC>gtT	p.V712V	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Silent_p.V416V	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	712					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGGCCACCGTCGTGGCCATCA	0.637																																						uc001kcv.2		NaN																	0				ovary(1)	1						c.(2134-2136)GTC>GTT		protocadherin 21 precursor							69.0	75.0	73.0					10																	85973933		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973933C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2136C>T	10.37:g.85973933C>T						CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Silent_p.V416V|CDHR1_uc001kcx.2_Silent_p.V26V	p.V712V	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			17	2136	+			712			Helical; (Potential).		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.2136C>T	CCDS7372.1																																																																																				0.637	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1		NM_033100		22	55	0	0	0	0.012319	0	22	55		
PTEN	5728	broad.mit.edu	37	10	89717673	89717673	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:89717673G>A	ENST00000371953.3	+	7	2055	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*10(1)|p.R233fs*12(1)|p.R233fs*20(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCCACACGACGGGAAGAC	0.423		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		51	Whole gene deletion(37)|Deletion - Frameshift(10)|Complex - frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233R(1)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.G165_K342del(1)	prostate(16)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(697-699)CGA>CAA		phosphatase and tensin homolog							154.0	132.0	140.0					10																	89717673		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717673G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.698G>A	10.37:g.89717673G>A	ENSP00000361021:p.Arg233Gln	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R233Q	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1729	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.698G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919913	0.73098	.	.	ENSG00000171862	ENST00000371953	D	0.84873	-1.91	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.063428	0.64402	D	0.000006	T	0.80934	0.4719	M	0.64404	1.975	0.58432	D	0.999993	P	0.36944	0.574	B	0.31869	0.137	T	0.79969	-0.1579	9	.	.	.	-6.2458	12.0395	0.53444	0.0796:0.0:0.9204:0.0	.	233	P60484	PTEN_HUMAN	Q	233	ENSP00000361021:R233Q	.	R	+	2	0	PTEN	89707653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.646000	0.83445	2.380000	0.81148	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314		17	44	0	0	0	0.006122	0	17	44		
CALHM2	51063	broad.mit.edu	37	10	105209283	105209283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:105209283G>A	ENST00000260743.5	-	3	939	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000393235.1_Missense_Mutation_p.S139F|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.S139F	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	139					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CGTGAGTGAGGAAGGGTCCAC	0.597																																						uc001kwz.2		NaN																	0				skin(1)	1						c.(415-417)TCC>TTC		calcium homeostasis modulator 2							80.0	69.0	73.0					10																	105209283		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105209283G>A	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.416C>T	10.37:g.105209283G>A	ENSP00000260743:p.Ser139Phe					CALHM2_uc001kxa.2_Missense_Mutation_p.S139F|CALHM2_uc001kxc.2_Missense_Mutation_p.S139F|CALHM2_uc001kxb.2_Missense_Mutation_p.S139F|CALHM2_uc001kxd.1_Missense_Mutation_p.S139F	p.S139F	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			2	802	-			139					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.416C>T	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985548	0.53934	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.18657	2.2;2.2;2.2	5.31	3.44	0.39384	.	0.258253	0.39341	N	0.001398	T	0.22704	0.0548	M	0.63428	1.95	0.43803	D	0.99635	B;B;B	0.18968	0.012;0.003;0.032	B;B;B	0.21917	0.022;0.013;0.037	T	0.03112	-1.1071	10	0.46703	T	0.11	-39.3934	10.2344	0.43275	0.0709:0.0:0.793:0.136	.	139;139;139	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	F	139	ENSP00000358803:S139F;ENSP00000260743:S139F;ENSP00000376927:S139F	ENSP00000260743:S139F	S	-	2	0	CALHM2	105199273	0.994000	0.37717	0.949000	0.38748	0.740000	0.42216	2.667000	0.46808	0.604000	0.29930	0.561000	0.74099	TCC		0.597	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1		NM_015916		23	49	0	0	0	0.016522	0	23	49		
TACC2	10579	broad.mit.edu	37	10	123845774	123845774	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:123845774G>A	ENST00000369005.1	+	4	4099	c.3759G>A	c.(3757-3759)gtG>gtA	p.V1253V	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.V1253V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.V1253V|TACC2_ENST00000334433.3_Silent_p.V1253V|TACC2_ENST00000453444.2_Silent_p.V1253V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1253					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGTGGAGTGAAAGCTGTTT	0.592																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3757-3759)GTG>GTA		transforming, acidic coiled-coil containing							82.0	90.0	87.0					10																	123845774		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845774G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3759G>A	10.37:g.123845774G>A						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.V1253V|TACC2_uc010qtv.1_Silent_p.V1253V	p.V1253V	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	4119	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1253					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.3759G>A	CCDS7626.1																																																																																				0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				36	54	0	0	0	0.005524	0	36	54		
MUC6	4588	broad.mit.edu	37	11	1024858	1024858	+	Missense_Mutation	SNP	T	T	G	rs201059141		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1024858T>G	ENST00000421673.2	-	24	3261	c.3211A>C	c.(3211-3213)Acc>Ccc	p.T1071P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1071	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGCAGGTGGCAAAGGTC	0.687																																						uc001lsw.2		NaN																	0				ovary(1)	1						c.(3211-3213)ACC>CCC		mucin 6, gastric							19.0	23.0	21.0					11																	1024858		2012	4161	6173	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1024858T>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3211A>C	11.37:g.1024858T>G	ENSP00000406861:p.Thr1071Pro						p.T1071P	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	24	3262	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1071			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3211A>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	5.483	0.274125	0.10403	.	.	ENSG00000184956	ENST00000421673	T	0.76448	-1.02	3.9	1.94	0.25998	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.30732	U	0.008986	T	0.53094	0.1775	N	0.04705	-0.18	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.46428	-0.9192	10	0.62326	D	0.03	.	5.673	0.17733	0.1433:0.6403:0.1383:0.0781	.	1071	Q6W4X9	MUC6_HUMAN	P	1071	ENSP00000406861:T1071P	ENSP00000406861:T1071P	T	-	1	0	MUC6	1014858	0.442000	0.25633	0.146000	0.22360	0.043000	0.13939	0.979000	0.29500	0.091000	0.17302	-1.147000	0.01851	ACC		0.687	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540		5	18	0	0	0	0.00308	0	5	18		
MUC6	4588	broad.mit.edu	37	11	1027765	1027765	+	Missense_Mutation	SNP	G	G	A	rs543009588		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1027765G>A	ENST00000421673.2	-	16	1951	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	634					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCAGGGCGGCACAGATGTG	0.662																																						uc001lsw.2		NaN																	0				ovary(1)	1						c.(1900-1902)GCC>GTC		mucin 6, gastric							30.0	37.0	35.0					11																	1027765		2108	4212	6320	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1027765G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1901C>T	11.37:g.1027765G>A	ENSP00000406861:p.Ala634Val						p.A634V	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	1952	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	634					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1901C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131588	0.37630	.	.	ENSG00000184956	ENST00000421673	T	0.77750	-1.12	4.18	3.25	0.37280	Uncharacterised domain, cysteine-rich (2);	0.705671	0.10697	U	0.644525	D	0.85561	0.5725	L	0.57536	1.79	0.09310	N	0.999995	D	0.76494	0.999	D	0.68943	0.961	T	0.75590	-0.3265	10	0.66056	D	0.02	.	14.3957	0.67010	0.0:0.1486:0.8514:0.0	.	634	Q6W4X9	MUC6_HUMAN	V	634	ENSP00000406861:A634V	ENSP00000406861:A634V	A	-	2	0	MUC6	1017765	0.852000	0.29690	0.005000	0.12908	0.081000	0.17604	3.952000	0.56691	1.088000	0.41272	0.484000	0.47621	GCC		0.662	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540		10	4	0	0	0	0.008291	0	10	4		
MUC6	4588	broad.mit.edu	37	11	1028662	1028662	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1028662G>A	ENST00000421673.2	-	13	1625	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	525	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGACCTCTGAACTGGGGCC	0.627																																						uc001lsw.2		NaN																	0				ovary(1)	1						c.(1573-1575)TTC>TTT		mucin 6, gastric							31.0	36.0	34.0					11																	1028662		2065	4198	6263	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028662G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1575C>T	11.37:g.1028662G>A							p.F525F	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1626	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	525			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.1575C>T	CCDS44513.1																																																																																				0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540		9	3	0	0	0	0.006214	0	9	3		
MUC2	4583	broad.mit.edu	37	11	1083168	1083168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1083168G>C	ENST00000441003.2	+	16	2095	c.2068G>C	c.(2068-2070)Gag>Cag	p.E690Q	MUC2_ENST00000359061.5_Missense_Mutation_p.E690Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	690					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACTGTCTCGAGGGCTTTGC	0.662																																						uc001lsx.1		NaN																	0				lung(1)|breast(1)	2						c.(2068-2070)GAG>CAG		mucin 2 precursor	Pranlukast(DB01411)						23.0	28.0	26.0					11																	1083168		2041	4155	6196	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1083168G>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2068G>C	11.37:g.1083168G>C	ENSP00000415183:p.Glu690Gln						p.E690Q	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2095	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	690					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2068G>C		.	.	.	.	.	.	.	.	.	.	g	0.719	-0.784315	0.02907	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12984	2.64;2.63	4.49	-4.68	0.03309	.	1.825820	0.03415	N	0.205396	T	0.07458	0.0188	N	0.10972	0.075	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.35724	-0.9777	10	0.16420	T	0.52	.	11.0693	0.47993	0.1993:0.5937:0.207:0.0	.	690	E7EUV1	.	Q	690	ENSP00000415183:E690Q;ENSP00000351956:E690Q	ENSP00000351956:E690Q	E	+	1	0	MUC2	1073168	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.049000	0.01405	-1.197000	0.02673	-1.201000	0.01664	GAG		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		NM_002457		14	17	0	0	0	0.006122	0	14	17		
PARVA	55742	broad.mit.edu	37	11	12525871	12525871	+	Silent	SNP	C	C	T	rs367832695		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:12525871C>T	ENST00000550549.1	+	6	601	c.552C>T	c.(550-552)gcC>gcT	p.A184A	PARVA_ENST00000538608.1_Silent_p.A131A|PARVA_ENST00000334956.8_Silent_p.A224A|PARVA_ENST00000539723.1_Silent_p.A184A			Q9NVD7	PARVA_HUMAN	parvin, alpha	184	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CTGTTCATGCCAAGAGCCTGG	0.458																																						uc001mki.2		NaN																	0				breast(3)	3						c.(550-552)GCC>GCT		parvin, alpha							90.0	85.0	87.0					11																	12525871		1981	4162	6143	SO:0001819	synonymous_variant	55742				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding	g.chr11:12525871C>T	AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.552C>T	11.37:g.12525871C>T						PARVA_uc010rck.1_Silent_p.A131A	p.A184A	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN		Epithelial(150;0.00624)	6	601	+			184			CH 1.		Q96C85|Q9HA48	Silent	SNP	ENST00000550549.1	37	c.552C>T																																																																																					0.458	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_018222		15	7	0	0	0	0.003163	0	15	7		
AMBRA1	55626	broad.mit.edu	37	11	46419037	46419037	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:46419037T>C	ENST00000458649.2	-	18	4278	c.3860A>G	c.(3859-3861)gAc>gGc	p.D1287G	AMBRA1_ENST00000314845.3_Missense_Mutation_p.D1197G|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D1258G|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D1227G|AMBRA1_ENST00000533727.1_Missense_Mutation_p.D1168G|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D1258G|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D1227G			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1287					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCCTGCAGCGTCCCCCCTGCT	0.602																																						uc010rgu.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(3859-3861)GAC>GGC		activating molecule in beclin-1-regulated							99.0	92.0	94.0					11																	46419037		2202	4299	6501	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46419037T>C	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3860A>G	11.37:g.46419037T>C	ENSP00000415327:p.Asp1287Gly					AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.D1258G|AMBRA1_uc001ncu.1_Missense_Mutation_p.D1197G|AMBRA1_uc001ncv.2_Missense_Mutation_p.D1290G|AMBRA1_uc001ncw.2_Missense_Mutation_p.D1168G|AMBRA1_uc001ncx.2_Missense_Mutation_p.D1227G	p.D1287G	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	18	4220	-			1287					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.3860A>G		.	.	.	.	.	.	.	.	.	.	T	3.583	-0.085189	0.07097	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.71103	-0.39;-0.54;-0.13;-0.25;-0.13;-0.25;-0.25	4.22	4.22	0.49857	.	0.672381	0.14331	N	0.326324	T	0.49304	0.1549	N	0.08118	0	0.20196	N	0.999929	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.41680	-0.9495	10	0.66056	D	0.02	.	8.3457	0.32272	0.0:0.0907:0.0:0.9093	.	1287;1258;1227;1168;1290;1197	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	G	1197;1168;1227;1258;1227;1287;245;1258	ENSP00000318313:D1197G;ENSP00000433372:D1168G;ENSP00000431926:D1227G;ENSP00000410899:D1258G;ENSP00000298834:D1227G;ENSP00000415327:D1287G;ENSP00000433945:D1258G	ENSP00000298834:D1227G	D	-	2	0	AMBRA1	46375613	0.641000	0.27251	0.867000	0.34043	0.009000	0.06853	1.775000	0.38584	2.135000	0.66039	0.459000	0.35465	GAC		0.602	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1		NM_017749		3	79	0	0	0	0.009096	0	3	79		
LRP4	4038	broad.mit.edu	37	11	46920516	46920516	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:46920516G>A	ENST00000378623.1	-	6	857	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	205	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGTAGATGTCGAGGATGCAGC	0.642																																						uc001ndn.3		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(613-615)CTC>CTT		low density lipoprotein receptor-related protein							49.0	42.0	44.0					11																	46920516		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46920516G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.615C>T	11.37:g.46920516G>A						LRP4_uc009ylh.1_Silent_p.L156L	p.L205L	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	6	761	-			205			Extracellular (Potential).|LDL-receptor class A 5.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.615C>T	CCDS31478.1																																																																																				0.642	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334		20	10	0	0	0	0.008871	0	20	10		
PTPMT1	114971	broad.mit.edu	37	11	47587500	47587500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:47587500G>A	ENST00000326674.9	+	2	239	c.217G>A	c.(217-219)Gag>Aag	p.E73K	PTPMT1_ENST00000426530.2_Missense_Mutation_p.R109Q|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.E73K|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000534775.1_Missense_Mutation_p.R109Q	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	73					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						CACCATGAACGAGGAGTACGA	0.677																																						uc001nfs.3		NaN																	0				skin(1)	1						c.(217-219)GAG>AAG		protein tyrosine phosphatase, mitochondrial 1							35.0	39.0	38.0					11																	47587500		2068	4197	6265	SO:0001583	missense	114971				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:47587500G>A	BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.217G>A	11.37:g.47587500G>A	ENSP00000325958:p.Glu73Lys					PTPMT1_uc001nfv.3_Missense_Mutation_p.R109Q|PTPMT1_uc009ylt.2_Missense_Mutation_p.E73K|PTPMT1_uc001nfu.3_Missense_Mutation_p.R109Q|NDUFS3_uc001nft.3_5'UTR	p.E73K	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN			2	410	+			73					E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	ENST00000326674.9	37	c.217G>A	CCDS41643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.713904|4.713904	0.89112|0.89112	.|.	.|.	ENSG00000110536|ENSG00000110536	ENST00000326656;ENST00000326674|ENST00000426530;ENST00000534775	T;D|.	0.85171|.	1.8;-1.95|.	4.84|4.84	3.93|3.93	0.45458|0.45458	Dual specificity phosphatase, catalytic domain (1);|.	0.069461|.	0.53938|.	U|.	0.000045|.	T|T	0.58235|0.58235	0.2108|0.2108	M|M	0.69463|0.69463	2.115|2.115	0.58432|0.58432	D|D	0.999995|0.999995	P;D|D;D	0.54397|0.61080	0.855;0.966|0.989;0.975	B;B|P;B	0.39562|0.44359	0.3;0.303|0.447;0.331	T|T	0.65763|0.65763	-0.6089|-0.6089	10|8	0.87932|0.87932	D|D	0|0	-11.9305|-11.9305	13.0282|13.0282	0.58827|0.58827	0.0783:0.0:0.9217:0.0|0.0783:0.0:0.9217:0.0	.|.	73;73|109;109	Q8WUK0-2;Q8WUK0|E9PAT8;E9PQM0	.;PTPM1_HUMAN|.;.	K|Q	73|109	ENSP00000325882:E73K;ENSP00000325958:E73K|.	ENSP00000325882:E73K|ENSP00000410272:R109Q	E|R	+|+	1|2	0|0	PTPMT1|PTPMT1	47544076|47544076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	8.367000|8.367000	0.90113|0.90113	1.247000|1.247000	0.43917|0.43917	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.677	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1		XM_374879		15	20	0	0	0	0.010504	0	15	20		
MAP4K2	5871	broad.mit.edu	37	11	64570095	64570095	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:64570095A>G	ENST00000294066.2	-	3	276	c.185T>C	c.(184-186)aTc>aCc	p.I62T	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.I62T|MEN1_ENST00000478548.1_5'Flank	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CAGGATGGTGATTTCCTGCTG	0.617																																						uc001obh.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(184-186)ATC>ACC		mitogen-activated protein kinase kinase kinase							52.0	44.0	47.0					11																	64570095		2201	4296	6497	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64570095A>G	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.185T>C	11.37:g.64570095A>G	ENSP00000294066:p.Ile62Thr					MAP4K2_uc001obi.2_Missense_Mutation_p.I62T|MAP4K2_uc010rnp.1_Missense_Mutation_p.I62T	p.I62T	NM_004579	NP_004570	Q12851	M4K2_HUMAN			3	277	-			62			Protein kinase.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.185T>C	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.906246	0.72868	.	.	ENSG00000168067	ENST00000294066;ENST00000377350;ENST00000439069	T;T;T	0.28255	1.62;1.62;1.62	2.95	2.95	0.34219	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.077330	0.49305	D	0.000154	T	0.50360	0.1611	M	0.72624	2.21	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.53830	-0.8383	10	0.87932	D	0	.	9.689	0.40116	1.0:0.0:0.0:0.0	.	62;62;62	B4E2Z1;Q86VU3;Q12851	.;.;M4K2_HUMAN	T	62	ENSP00000294066:I62T;ENSP00000366567:I62T;ENSP00000403563:I62T	ENSP00000294066:I62T	I	-	2	0	MAP4K2	64326671	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.047000	0.71038	1.610000	0.50200	0.374000	0.22700	ATC		0.617	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1		NM_004579		11	20	0	0	0	0.003163	0	11	20		
MUS81	80198	broad.mit.edu	37	11	65628568	65628568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:65628568C>T	ENST00000308110.4	+	2	609	c.260C>T	c.(259-261)tCg>tTg	p.S87L	CFL1_ENST00000525451.2_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.S12L|CFL1_ENST00000308162.5_5'Flank|CFL1_ENST00000534769.1_Intron|CFL1_ENST00000531413.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	87					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CACCGAACATCGGGCGGTGAG	0.662								Homologous recombination																														uc001ofv.3		NaN																	0					0						c.(259-261)TCG>TTG	Homologous_recombination	MUS81 endonuclease homolog							28.0	34.0	32.0					11																	65628568		2200	4295	6495	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65628568C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.260C>T	11.37:g.65628568C>T	ENSP00000307853:p.Ser87Leu					CFL1_uc001ofs.2_5'Flank|CFL1_uc001oft.2_5'Flank|CFL1_uc001ofu.2_5'Flank|MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'Flank	p.S87L	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	2	613	+			87					Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.260C>T	CCDS8115.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888691	0.91814	.	.	ENSG00000172732	ENST00000529857;ENST00000533035;ENST00000308110;ENST00000437855;ENST00000525768	T;T;T;T	0.46819	0.86;2.51;0.86;1.82	4.67	4.67	0.58626	DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.654273	0.15075	N	0.281968	T	0.46718	0.1407	L	0.43152	1.355	0.09310	N	1	D	0.64830	0.994	P	0.47251	0.542	T	0.39375	-0.9617	10	0.45353	T	0.12	-5.2681	13.4188	0.60985	0.0:1.0:0.0:0.0	.	87	Q96NY9	MUS81_HUMAN	L	152;12;87;87;12	ENSP00000431979:S152L;ENSP00000432287:S12L;ENSP00000307853:S87L;ENSP00000431478:S12L	ENSP00000307853:S87L	S	+	2	0	MUS81	65385144	0.474000	0.25886	0.004000	0.12327	0.286000	0.27126	1.974000	0.40559	2.309000	0.77851	0.491000	0.48974	TCG		0.662	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3		NM_025128		35	38	0	0	0	0.005524	0	35	38		
SSH3	54961	broad.mit.edu	37	11	67071614	67071614	+	Missense_Mutation	SNP	G	G	A	rs138958962		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:67071614G>A	ENST00000308127.4	+	2	270	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	SSH3_ENST00000308298.7_Missense_Mutation_p.R31Q|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.R31Q	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	31					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGAAGGAGTCGACTCCAGCGA	0.692																																						uc001okj.2		NaN																	0				ovary(1)	1						c.(91-93)CGA>CAA		slingshot homolog 3							17.0	17.0	17.0					11																	67071614		2186	4282	6468	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67071614G>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.92G>A	11.37:g.67071614G>A	ENSP00000312081:p.Arg31Gln					SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_5'UTR	p.R31Q	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		2	270	+			31					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.92G>A	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028007	0.35797	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.31769	3.84;1.48;3.79	4.16	2.22	0.28083	.	2.609730	0.01332	N	0.011297	T	0.28665	0.0710	L	0.46157	1.445	0.34296	D	0.683843	B	0.20052	0.041	B	0.08055	0.003	T	0.27502	-1.0072	10	0.27082	T	0.32	-5.2968	6.4916	0.22119	0.2328:0.0:0.7672:0.0	.	31	Q8TE77	SSH3_HUMAN	Q	31	ENSP00000312081:R31Q;ENSP00000310055:R31Q;ENSP00000365948:R31Q	ENSP00000312081:R31Q	R	+	2	0	SSH3	66828190	0.000000	0.05858	0.999000	0.59377	0.287000	0.27160	-0.113000	0.10774	0.946000	0.37632	0.462000	0.41574	CGA		0.692	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1		NM_018276		13	14	0	0	0	0.016723	0	13	14		
PITPNM1	9600	broad.mit.edu	37	11	67271650	67271650	+	Start_Codon_SNP	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:67271650A>G	ENST00000534749.1	-	1	190	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PITPNM1_ENST00000356404.3_Start_Codon_SNP_p.M1T|PITPNM1_ENST00000436757.2_Start_Codon_SNP_p.M1T			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CTTGATGAGCATCCTGAAGGC	0.706																																					GBM(28;144 709 4607 5525)	uc001olx.2		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(1-3)ATG>ACG		phosphatidylinositol transfer protein,							39.0	32.0	34.0					11																	67271650		2198	4290	6488	SO:0001582	initiator_codon_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67271650A>G	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2T>C	11.37:g.67271650A>G	ENSP00000437286:p.Met1Thr					PITPNM1_uc001oly.2_Missense_Mutation_p.M1T|PITPNM1_uc001olz.2_Missense_Mutation_p.M1T	p.M1T	NM_004910	NP_004901	O00562	PITM1_HUMAN			1	191	-			1					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.2T>C	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	a	23.0	4.367570	0.82463	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559;ENST00000524901	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	3.47	3.47	0.39725	START-like domain (1);	0.143843	0.32430	N	0.006112	T	0.64649	0.2617	.	.	.	0.34695	D	0.726189	D;D	0.69078	0.997;0.996	D;D	0.79784	0.98;0.993	T	0.75572	-0.3271	9	0.87932	D	0	-25.3046	9.7755	0.40616	1.0:0.0:0.0:0.0	.	1;1	O00562-2;O00562	.;PITM1_HUMAN	T	1	ENSP00000437286:M1T;ENSP00000398787:M1T;ENSP00000348772:M1T;ENSP00000434046:M1T;ENSP00000432977:M1T;ENSP00000434904:M1T;ENSP00000432746:M1T	ENSP00000348772:M1T	M	-	2	0	PITPNM1	67028226	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.754000	0.85163	1.594000	0.50039	0.450000	0.29827	ATG		0.706	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1		NM_004910	Missense_Mutation	10	25	0	0	0	0.006214	0	10	25		
ARAP1	116985	broad.mit.edu	37	11	72420989	72420989	+	Missense_Mutation	SNP	G	G	C	rs77842696	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:72420989G>C	ENST00000393609.3	-	11	1651	c.1449C>G	c.(1447-1449)atC>atG	p.I483M	ARAP1_ENST00000334211.8_Missense_Mutation_p.I238M|ARAP1_ENST00000393605.3_Missense_Mutation_p.I243M|ARAP1_ENST00000359373.5_Missense_Mutation_p.I483M|ARAP1_ENST00000429686.1_Missense_Mutation_p.I238M|ARAP1_ENST00000426523.1_Missense_Mutation_p.I238M|ARAP1_ENST00000455638.2_Missense_Mutation_p.I483M	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	483	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGCTCATGTCGATGAAGGTGA	0.622																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NaN																	0				skin(1)	1						c.(1447-1449)ATC>ATG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							191.0	136.0	155.0					11																	72420989		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72420989G>C	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1449C>G	11.37:g.72420989G>C	ENSP00000377233:p.Ile483Met					ARAP1_uc001osv.2_Missense_Mutation_p.I483M|ARAP1_uc001osr.2_Missense_Mutation_p.I243M|ARAP1_uc001oss.2_Missense_Mutation_p.I238M|ARAP1_uc009yth.2_Missense_Mutation_p.I238M|ARAP1_uc010rre.1_Missense_Mutation_p.I238M	p.I483M	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			11	1638	-			483			PH 2.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.1449C>G	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215924	0.58452	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.33	-6.73	0.01749	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.147481	0.43919	D	0.000504	T	0.67730	0.2924	L	0.47016	1.485	0.28545	N	0.911918	P;D;P;P;D	0.65815	0.923;0.987;0.903;0.923;0.995	P;P;P;P;D	0.65010	0.786;0.818;0.62;0.786;0.931	T	0.64972	-0.6281	10	0.87932	D	0	.	4.6553	0.12615	0.6025:0.104:0.1888:0.1047	.	238;238;483;483;243	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	M	483;483;243;238;483;238;238;272	ENSP00000352332:I483M;ENSP00000390461:I483M;ENSP00000377230:I243M;ENSP00000335506:I238M;ENSP00000377233:I483M;ENSP00000392264:I238M;ENSP00000403127:I238M	ENSP00000335506:I238M	I	-	3	3	ARAP1	72098637	0.001000	0.12720	0.843000	0.33291	0.643000	0.38383	-1.702000	0.01901	-1.427000	0.01992	-0.300000	0.09419	ATC		0.622	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		NM_001040118		34	64	0	0	0	0.012213	0	34	64		
KMT2A	4297	broad.mit.edu	37	11	118342391	118342391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:118342391C>T	ENST00000389506.5	+	3	517	c.517C>T	c.(517-519)Cga>Tga	p.R173*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R173*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R173*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	173					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AACTAGTCCTCGAAAACCTCG	0.383																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(517-519)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia							48.0	50.0	49.0					11																	118342391		2200	4296	6496	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118342391C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.517C>T	11.37:g.118342391C>T	ENSP00000374157:p.Arg173*					MLL_uc001ptb.2_Nonsense_Mutation_p.R173*|MLL_uc001psz.1_Nonsense_Mutation_p.R206*|MLL_uc001ptd.1_Intron	p.R173*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	3	540	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	173			A.T hook 1.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.517C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791835	0.90453	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000328469	.	.	.	5.92	5.92	0.95590	.	0.076043	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4977	0.90870	0.0:1.0:0.0:0.0	.	.	.	.	X	173;206;173;173;206	.	ENSP00000333556:R206X	R	+	1	2	MLL	117847601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.841000	0.48223	2.801000	0.96364	0.650000	0.86243	CGA		0.383	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		8	15	0	0	0	0.004482	0	8	15		
ZNF202	7753	broad.mit.edu	37	11	123598256	123598256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:123598256C>T	ENST00000529691.1	-	6	1099	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ZNF202_ENST00000336139.4_Missense_Mutation_p.E294K|ZNF202_ENST00000530393.1_Missense_Mutation_p.E294K			O95125	ZN202_HUMAN	zinc finger protein 202	294	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACCCAAGGCTCTTCCTCTCTA	0.483																																						uc001pzd.1		NaN																	0				ovary(1)	1						c.(880-882)GAG>AAG		zinc finger protein 202							104.0	100.0	101.0					11																	123598256		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123598256C>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.880G>A	11.37:g.123598256C>T	ENSP00000433881:p.Glu294Lys					ZNF202_uc001pzc.1_Missense_Mutation_p.E70K|ZNF202_uc001pze.1_Missense_Mutation_p.E294K|ZNF202_uc001pzf.1_Missense_Mutation_p.E294K	p.E294K	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	1280	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	294			KRAB.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.880G>A	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608230	0.46527	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.09073	3.02;3.02;3.02	4.86	4.86	0.63082	Krueppel-associated box (3);	0.000000	0.48767	D	0.000175	T	0.17704	0.0425	L	0.45352	1.415	0.44956	D	0.997978	D	0.67145	0.996	P	0.61070	0.883	T	0.01956	-1.1240	10	0.25106	T	0.35	-20.9101	15.528	0.75928	0.0:1.0:0.0:0.0	.	294	O95125	ZN202_HUMAN	K	294	ENSP00000337724:E294K;ENSP00000432504:E294K;ENSP00000433881:E294K	ENSP00000337724:E294K	E	-	1	0	ZNF202	123103466	0.852000	0.29690	1.000000	0.80357	0.998000	0.95712	3.302000	0.51849	2.524000	0.85096	0.650000	0.86243	GAG		0.483	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1		NM_003455		22	25	0	0	0	0.016522	0	22	25		
TP53AIP1	63970	broad.mit.edu	37	11	128805599	128805599	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:128805599G>C	ENST00000531399.1	-	4	471	c.262C>G	c.(262-264)Cta>Gta	p.L88V	TP53AIP1_ENST00000530777.1_Intron|TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000602346.1_3'UTR	NM_022112.2	NP_071395.2	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	88					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				large_intestine(1)|lung(1)|skin(1)	3						GAGAGACCTAGACCAAGGCCT	0.463																																						uc001qey.2		NaN																	0				lung(1)	1						c.(262-264)CTA>GTA		RecName: Full=p53-regulated apoptosis-inducing protein 1;          Short=p53AIP1;							16.0	15.0	15.0					11																	128805599		874	1987	2861	SO:0001583	missense	63970				apoptosis	mitochondrion		g.chr11:128805599G>C	AB045831	CCDS8480.1, CCDS8480.2, CCDS55797.1, CCDS55798.1, CCDS58195.1	11q24.3	2011-01-26	2009-03-09		ENSG00000120471	ENSG00000120471			29984	protein-coding gene	gene with protein product		605426				11030628, 12019168	Standard	NM_022112		Approved	p53AIP1	uc021qsd.1	Q9HCN2		ENST00000531399.1:c.262C>G	11.37:g.128805599G>C	ENSP00000432743:p.Leu88Val					TP53AIP1_uc001qex.2_3'UTR	p.L88V			Q9HCN2	TPIP1_HUMAN			4	472	-			88					Q6NT40|Q7Z6F7|Q9HCN0|Q9HCN1	Missense_Mutation	SNP	ENST00000531399.1	37	c.262C>G	CCDS8480.2	.	.	.	.	.	.	.	.	.	.	G	1.945	-0.442704	0.04604	.	.	ENSG00000120471	ENST00000531399	T	0.56776	0.44	0.753	-0.275	0.12906	.	.	.	.	.	T	0.26159	0.0638	N	0.08118	0	0.09310	N	1	P	0.45594	0.862	B	0.37943	0.261	T	0.14755	-1.0461	8	0.87932	D	0	.	.	.	.	.	88	Q9HCN2	TPIP1_HUMAN	V	88	ENSP00000432743:L88V	ENSP00000432743:L88V	L	-	1	2	TP53AIP1	128310809	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.139000	0.10358	-0.153000	0.11137	-0.657000	0.03884	CTA		0.463	TP53AIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386244.1		NM_022112		3	5	0	0	0	0.004672	0	3	5		
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:130785628G>A	ENST00000265909.4	-	1	776	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SNX19_ENST00000533214.1_Silent_p.L69L|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	69					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L69L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602																																						uc001qgk.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|lung(2)	4						c.(205-207)CTC>CTT		sorting nexin 19							62.0	54.0	57.0					11																	130785628		2201	4297	6498	SO:0001819	synonymous_variant	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785628G>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.207C>T	11.37:g.130785628G>A						SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.L69L|SNX19_uc009zcx.1_Intron	p.L69L	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	755	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	69					E9PKB9|Q8IV55	Silent	SNP	ENST00000265909.4	37	c.207C>T	CCDS31721.1																																																																																				0.602	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1		NM_014758		9	42	0	0	0	0.004482	0	9	42		
B4GALNT3	283358	broad.mit.edu	37	12	645436	645436	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:645436A>G	ENST00000266383.5	+	3	339	c.326A>G	c.(325-327)aAc>aGc	p.N109S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	109					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTGAAGTGGAACAAGCCTGTC	0.448																																						uc001qii.1		NaN																	0				ovary(1)|skin(1)	2						c.(325-327)AAC>AGC		beta							177.0	153.0	161.0					12																	645436		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:645436A>G	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.326A>G	12.37:g.645436A>G	ENSP00000266383:p.Asn109Ser						p.N109S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		3	326	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		109			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.326A>G	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666537	0.29604	.	.	ENSG00000139044	ENST00000266383	T	0.05081	3.5	5.61	5.61	0.85477	.	0.242480	0.40640	N	0.001060	T	0.17066	0.0410	L	0.43152	1.355	0.38838	D	0.956008	D	0.63880	0.993	D	0.72625	0.978	T	0.01670	-1.1299	10	0.41790	T	0.15	-28.4959	13.1771	0.59633	1.0:0.0:0.0:0.0	.	109	Q6L9W6	B4GN3_HUMAN	S	109	ENSP00000266383:N109S	ENSP00000266383:N109S	N	+	2	0	B4GALNT3	515697	1.000000	0.71417	0.996000	0.52242	0.246000	0.25737	4.912000	0.63335	2.151000	0.67156	0.454000	0.30748	AAC		0.448	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2		NM_173593		14	84	0	0	0	0.003163	0	14	84		
KCNA6	3742	broad.mit.edu	37	12	4920654	4920654	+	Missense_Mutation	SNP	G	G	A	rs372964376		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:4920654G>A	ENST00000280684.3	+	1	2313	c.1447G>A	c.(1447-1449)Ggg>Agg	p.G483R	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.G483R			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	483					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CGTCACTTGTGGGCAGCCTGC	0.607										HNSCC(72;0.22)																												uc001qng.2		NaN																	0				skin(2)|ovary(1)	3						c.(1447-1449)GGG>AGG		potassium voltage-gated channel, shaker-related		G	ARG/GLY	0,4406		0,0,2203	110.0	105.0	107.0		1447	5.1	1.0	12		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNA6	NM_002235.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	483/530	4920654	1,13005	2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920654G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1447G>A	12.37:g.4920654G>A	ENSP00000280684:p.Gly483Arg	HNSCC(72;0.22)					p.G483R	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	2313	+			483						Missense_Mutation	SNP	ENST00000280684.3	37	c.1447G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839605	0.32513	0.0	1.16E-4	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97404	-4.37;-4.37	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.93690	0.7984	L	0.44542	1.39	0.43255	D	0.995188	P	0.45672	0.864	B	0.35607	0.206	D	0.92818	0.6270	10	0.15066	T	0.55	.	17.6514	0.88165	0.0:0.0:1.0:0.0	.	483	P17658	KCNA6_HUMAN	R	483	ENSP00000408321:G483R;ENSP00000280684:G483R	ENSP00000280684:G483R	G	+	1	0	KCNA6	4790915	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.789000	0.38724	2.641000	0.89580	0.591000	0.81541	GGG		0.607	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1		NM_002235		21	48	0	0	0	0.012319	0	21	48		
CD163	9332	broad.mit.edu	37	12	7635263	7635263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:7635263G>A	ENST00000359156.4	-	14	3425	c.3223C>T	c.(3223-3225)Cga>Tga	p.R1075*	CD163_ENST00000432237.2_Nonsense_Mutation_p.R1075*|CD163_ENST00000396620.3_Nonsense_Mutation_p.R1108*|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Nonsense_Mutation_p.R1063*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1075					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CTCTGTCTTCGCTTTTTAGTC	0.433																																						uc001qsz.3		NaN																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(3223-3225)CGA>TGA		CD163 antigen isoform a							132.0	143.0	139.0					12																	7635263		2203	4300	6503	SO:0001587	stop_gained	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635263G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3223C>T	12.37:g.7635263G>A	ENSP00000352071:p.Arg1075*					CD163_uc001qta.3_Nonsense_Mutation_p.R1075*|CD163_uc009zfw.2_Nonsense_Mutation_p.R1108*	p.R1075*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			14	3351	-			1075			Cytoplasmic (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	ENST00000359156.4	37	c.3223C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	37	6.247104	0.97408	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	4.32	0.17	0.15021	.	0.847527	0.09654	N	0.773336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	7.5143	0.27592	0.0:0.1558:0.3667:0.4775	.	.	.	.	X	1075;1063;1108;1075	.	ENSP00000352071:R1075X	R	-	1	2	CD163	7526530	0.491000	0.26019	0.000000	0.03702	0.027000	0.11550	0.580000	0.23803	0.034000	0.15491	0.561000	0.74099	CGA		0.433	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2		NM_004244, NM_203416		61	72	0	0	0	0.01441	0	61	72		
SLC2A3	6515	broad.mit.edu	37	12	8083956	8083956	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:8083956C>A	ENST00000075120.7	-	4	635	c.395G>T	c.(394-396)gGa>gTa	p.G132V		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	132					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.G132V(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGTGCAGAGTCCGCAGAAGAG	0.537																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(394-396)GGA>GTA		solute carrier family 2 (facilitated glucose							105.0	98.0	100.0					12																	8083956		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083956C>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.395G>T	12.37:g.8083956C>A	ENSP00000075120:p.Gly132Val					SLC2A3_uc001qts.2_Missense_Mutation_p.G132V	p.G132V	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	4	657	-			132			Helical; Name=4; (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.395G>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397023	0.83120	.	.	ENSG00000059804	ENST00000075120;ENST00000540978;ENST00000544291	D;D	0.92199	-2.99;-2.99	4.37	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	H	0.99464	4.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98844	1.0756	10	0.87932	D	0	.	14.8038	0.69935	0.0:1.0:0.0:0.0	.	58;132	F5H2H8;P11169	.;GTR3_HUMAN	V	132;58;101	ENSP00000075120:G132V;ENSP00000440750:G101V	ENSP00000075120:G132V	G	-	2	0	SLC2A3	7975223	1.000000	0.71417	0.898000	0.35279	0.939000	0.58152	6.851000	0.75425	2.426000	0.82243	0.555000	0.69702	GGA		0.537	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1		NM_006931		27	70	1	0	2.12542e-12	0.00632	2.41649e-12	27	70		
SOX5	6660	broad.mit.edu	37	12	23999076	23999076	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:23999076T>A	ENST00000451604.2	-	3	423	c.322A>T	c.(322-324)Acc>Tcc	p.T108S	SOX5_ENST00000381381.2_Missense_Mutation_p.T95S|SOX5_ENST00000309359.1_Missense_Mutation_p.T95S|SOX5_ENST00000441133.2_Missense_Mutation_p.T73S|SOX5_ENST00000541847.1_Missense_Mutation_p.T98S|SOX5_ENST00000537393.1_Missense_Mutation_p.T73S|SOX5_ENST00000541536.1_Missense_Mutation_p.T95S|SOX5_ENST00000545921.1_Missense_Mutation_p.T98S|SOX5_ENST00000546136.1_Missense_Mutation_p.T95S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	108					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGAGGTGAGGTAGATGAGTTG	0.468																																						uc001rfw.2		NaN																	0				ovary(5)|lung(1)	6						c.(322-324)ACC>TCC		SRY (sex determining region Y)-box 5 isoform a							113.0	100.0	104.0					12																	23999076		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23999076T>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.322A>T	12.37:g.23999076T>A	ENSP00000398273:p.Thr108Ser					SOX5_uc001rfx.2_Missense_Mutation_p.T95S|SOX5_uc001rfy.2_Missense_Mutation_p.T95S|SOX5_uc010siv.1_Missense_Mutation_p.T95S|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.T60S|SOX5_uc001rga.2_Missense_Mutation_p.T73S	p.T108S	NM_006940	NP_008871	P35711	SOX5_HUMAN			3	424	-			108					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.322A>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	34	5.400448	0.96030	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.98044	-4.68;-4.68;-4.64;-4.68;-4.37;-4.64;-4.68	5.79	5.79	0.91817	.	0.056630	0.64402	D	0.000001	D	0.98585	0.9527	M	0.77820	2.39	0.58432	D	0.999997	D;D;D;D	0.89917	0.998;0.999;0.974;1.0	D;D;D;D	0.87578	0.994;0.998;0.953;0.997	D	0.99548	1.0965	10	0.56958	D	0.05	.	16.1299	0.81422	0.0:0.0:0.0:1.0	.	73;73;95;108	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	S	95;95;95;108;60;73;95;98;98;73;95	ENSP00000437487:T95S;ENSP00000308927:T95S;ENSP00000370788:T95S;ENSP00000398273:T108S;ENSP00000439832:T73S;ENSP00000441973:T95S;ENSP00000443520:T98S	ENSP00000308927:T95S	T	-	1	0	SOX5	23890343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.684000	0.84104	2.215000	0.71742	0.528000	0.53228	ACC		0.468	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940		22	59	0	0	0	0.004656	0	22	59		
C12orf77	196415	broad.mit.edu	37	12	25149238	25149238	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:25149238G>A	ENST00000549828.1	-	2	243	c.39C>T	c.(37-39)ctC>ctT	p.L13L	C12orf77_ENST00000434912.3_5'UTR|C12orf77_ENST00000549262.1_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	13										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TTATGACTAGGAGGGAAATGT	0.408																																						uc001rgf.2		NaN																	0					0						c.(37-39)CTC>CTT		hypothetical protein LOC196415							117.0	110.0	112.0					12																	25149238		1887	4127	6014	SO:0001819	synonymous_variant	196415							g.chr12:25149238G>A	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.39C>T	12.37:g.25149238G>A							p.L13L	NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN			2	244	-			13						Silent	SNP	ENST00000549828.1	37	c.39C>T	CCDS44846.1																																																																																				0.408	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1		NM_001101339		14	57	0	0	0	0.00499	0	14	57		
DDX11	1663	broad.mit.edu	37	12	31256902	31256902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:31256902G>A	ENST00000407793.2	+	27	3099	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	DDX11_ENST00000545668.1_Missense_Mutation_p.E950K|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000228264.6_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	950					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTGGAGTCCAGAGTGCTGCCA	0.592										Multiple Myeloma(12;0.14)																												uc001rjt.1		NaN																	0				breast(3)	3						c.(2848-2850)GAG>AAG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							20.0	33.0	28.0					12																	31256902		1316	2296	3612	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31256902G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2848G>A	12.37:g.31256902G>A	ENSP00000384703:p.Glu950Lys	Multiple Myeloma(12;0.14)				DDX11_uc001rjr.1_3'UTR|DDX11_uc001rjs.1_3'UTR|DDX11_uc001rju.1_3'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E950K|DDX11_uc001rjw.1_3'UTR|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_Missense_Mutation_p.E119K	p.E950K	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			27	3099	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		950					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2848G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531857	0.27387	.	.	ENSG00000013573	ENST00000407793;ENST00000545668	T;T	0.72942	-0.7;-0.7	1.38	0.39	0.16275	.	.	.	.	.	T	0.48241	0.1489	N	0.19112	0.55	0.09310	N	0.999998	B	0.18461	0.028	B	0.08055	0.003	T	0.24012	-1.0172	8	.	.	.	.	4.6655	0.12664	0.0:0.0:0.6302:0.3698	.	950	Q96FC9	DDX11_HUMAN	K	950	ENSP00000384703:E950K;ENSP00000440402:E950K	.	E	+	1	0	DDX11	31148169	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	-0.604000	0.05667	0.124000	0.18369	0.416000	0.27883	GAG		0.592	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1		NM_030653		6	6	0	0	0	0.001168	0	6	6		
SMAGP	57228	broad.mit.edu	37	12	51639758	51639758	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:51639758G>T	ENST00000603798.1	-	4	933	c.261C>A	c.(259-261)gcC>gcA	p.A87A	SMAGP_ENST00000605627.1_Silent_p.A73A|DAZAP2_ENST00000604900.1_Intron|SMAGP_ENST00000398453.3_Silent_p.A87A|DAZAP2_ENST00000425012.2_Intron|SMAGP_ENST00000603864.1_Silent_p.A87A	NM_001031628.1	NP_001026798.1	Q0VAQ4	SMAGP_HUMAN	small cell adhesion glycoprotein	87						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)											CGCTGCCCTTGGCCAAGTCAC	0.488																																						uc001ryc.1		NaN																	0					0						c.(259-261)GCC>GCA		small trans-membrane and glycosylated protein							129.0	123.0	125.0					12																	51639758		1993	4165	6158	SO:0001819	synonymous_variant	57228					cytoplasmic vesicle membrane|integral to membrane|plasma membrane		g.chr12:51639758G>T		CCDS44889.1	12q13.13	2010-02-17			ENSG00000170545	ENSG00000170545			26918	protein-coding gene	gene with protein product	"""small trans-membrane and glycosylated protein"""					15021913	Standard	NM_001031628		Approved	MGC149453, MGC149454, hSMAGP	uc001rye.1	Q0VAQ4		ENST00000603798.1:c.261C>A	12.37:g.51639758G>T						SMAGP_uc001ryd.1_Silent_p.A87A|SMAGP_uc001rye.1_Silent_p.A87A|SMAGP_uc001ryf.1_RNA|DAZAP2_uc010snf.1_Intron	p.A87A	NM_001033873	NP_001029045	Q0VAQ4	SMAGP_HUMAN			3	932	-			87			Cytoplasmic (Potential).		A6NIL5	Silent	SNP	ENST00000603798.1	37	c.261C>A	CCDS44889.1																																																																																				0.488	SMAGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469789.1		NM_020467		22	36	1	0	3.8784e-16	0.012319	4.49078e-16	22	36		
KRT2	3849	broad.mit.edu	37	12	53040646	53040646	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:53040646C>G	ENST00000309680.3	-	7	1368	c.1347G>C	c.(1345-1347)ctG>ctC	p.L449L		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	449	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGGCCTGCTGCAGGGCCTCCT	0.587																																						uc001sat.2		NaN																	0				ovary(2)	2						c.(1345-1347)CTG>CTC		keratin 2							100.0	89.0	93.0					12																	53040646		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53040646C>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1347G>C	12.37:g.53040646C>G							p.L449L	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	7	1380	-			449			Coil 2.|Rod.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.1347G>C	CCDS8835.1																																																																																				0.587	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423		10	78	0	0	0	0.008291	0	10	78		
CSAD	51380	broad.mit.edu	37	12	53565213	53565213	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:53565213G>C	ENST00000444623.1	-	8	731	c.464C>G	c.(463-465)tCc>tGc	p.S155C	CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000453446.2_Missense_Mutation_p.S155C|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000267085.4_Missense_Mutation_p.S182C	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	155					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	ATACATGTTGGAGATGGAGCC	0.597																																					Ovarian(109;252 1546 16882 28524 44645)	uc001sby.2		NaN																	0				ovary(1)	1						c.(463-465)TCC>TGC		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						47.0	45.0	45.0					12																	53565213		2203	4300	6503	SO:0001583	missense	51380	Hereditary_Prostate_Cancer			carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53565213G>C	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.464C>G	12.37:g.53565213G>C	ENSP00000415485:p.Ser155Cys					CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_Intron|CSAD_uc010snx.1_Missense_Mutation_p.S182C|CSAD_uc001sbz.2_Missense_Mutation_p.S155C|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_3'UTR	p.S155C	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN			7	590	-			155					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.464C>G	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100777	0.94245	.	.	ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000453446;ENST00000454442;ENST00000437073	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.36	5.36	0.76844	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.80529	-0.1342	10	0.72032	D	0.01	-28.8732	18.2528	0.90009	0.0:0.0:1.0:0.0	.	182;155	Q9Y600-3;Q9Y600	.;CSAD_HUMAN	C	244;182;155;155;155;49;155	ENSP00000267085:S182C;ENSP00000415485:S155C;ENSP00000410648:S155C;ENSP00000415314:S155C	ENSP00000267085:S182C	S	-	2	0	CSAD	51851480	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.109000	0.94291	2.682000	0.91365	0.655000	0.94253	TCC		0.597	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1		NM_015989		11	29	0	0	0	0.008291	0	11	29		
ITGA7	3679	broad.mit.edu	37	12	56091544	56091544	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:56091544A>G	ENST00000555728.1	-	10	1504	c.1476T>C	c.(1474-1476)gaT>gaC	p.D492D	ITGA7_ENST00000257879.6_Silent_p.D448D|ITGA7_ENST00000553804.1_Silent_p.D452D|ITGA7_ENST00000394229.2_Silent_p.D448D|ITGA7_ENST00000394230.2_Silent_p.D452D|ITGA7_ENST00000347027.6_Silent_p.D448D|ITGA7_ENST00000257880.7_Silent_p.D492D|ITGA7_ENST00000452168.2_Silent_p.D355D			Q13683	ITA7_HUMAN	integrin, alpha 7	492					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCCATCCATATCCAAGCTGC	0.607																																						uc001shh.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1354-1356)GAT>GAC		integrin alpha 7 isoform 1 precursor							88.0	85.0	86.0					12																	56091544		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56091544A>G		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1476T>C	12.37:g.56091544A>G						ITGA7_uc001shg.2_Silent_p.D448D|ITGA7_uc010sps.1_Silent_p.D355D|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Silent_p.D335D	p.D452D	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			9	1576	-			492			Potential.|FG-GAP 7.|Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.1356T>C																																																																																					0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1		NM_002206		24	32	0	0	0	0.021523	0	24	32		
CD63	967	broad.mit.edu	37	12	56120509	56120509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:56120509G>A	ENST00000549117.1	-	5	837	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CD63_ENST00000552754.1_Missense_Mutation_p.S111L|CD63_ENST00000552692.1_Missense_Mutation_p.S134L|CD63_ENST00000420846.3_Missense_Mutation_p.S134L|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000257857.4_Missense_Mutation_p.S134L|CD63_ENST00000548898.1_Missense_Mutation_p.S41L|CD63_ENST00000548160.1_Missense_Mutation_p.S41L|CD63_ENST00000546939.1_Missense_Mutation_p.S52L|CD63_ENST00000552067.1_Missense_Mutation_p.S41L|CD63_ENST00000550776.1_Missense_Mutation_p.S52L	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	134					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GTCCAGGATCGAAGCAGTGTG	0.522																																					Pancreas(123;1459 1747 6717 18841 37380)	uc001shm.2		NaN																	0					0						c.(400-402)TCG>TTG		CD63 antigen isoform A							125.0	113.0	117.0					12																	56120509		2203	4300	6503	SO:0001583	missense	967				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56120509G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.401C>T	12.37:g.56120509G>A	ENSP00000447730:p.Ser134Leu					CD63_uc009znz.2_Missense_Mutation_p.S111L|CD63_uc001shn.2_Missense_Mutation_p.S134L|CD63_uc001sho.2_Missense_Mutation_p.S134L|CD63_uc001shp.2_Missense_Mutation_p.S134L	p.S134L	NM_001780	NP_001771	P08962	CD63_HUMAN			4	497	-			134			Extracellular (Potential).		F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	c.401C>T	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560073	0.27827	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.08	-5.42	0.02640	Tetraspanin, EC2 domain (1);	2.354970	0.01563	N	0.020215	T	0.57330	0.2046	N	0.11154	0.105	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.47222	-0.9134	10	0.25751	T	0.34	.	8.1828	0.31322	0.5669:0.1124:0.3207:0.0	.	111;134;134	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	L	41;41;134;41;52;134;134;134;111;52;134;134	ENSP00000447938:S41L;ENSP00000449684:S41L;ENSP00000393502:S134L;ENSP00000449654:S41L;ENSP00000447356:S52L;ENSP00000449337:S134L;ENSP00000447730:S134L;ENSP00000257857:S134L;ENSP00000446807:S111L;ENSP00000448091:S52L;ENSP00000449281:S134L;ENSP00000446752:S134L	ENSP00000257857:S134L	S	-	2	0	CD63	54406776	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.618000	0.00880	-0.923000	0.03785	-0.469000	0.05056	TCG		0.522	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1				31	34	0	0	0	0.007291	0	31	34		
MBD6	114785	broad.mit.edu	37	12	57918588	57918589	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:57918588_57918589CC>TT	ENST00000355673.3	+	4	555_556	c.199_200CC>TT	c.(199-201)CCa>TTa	p.P67L	MBD6_ENST00000431731.2_Missense_Mutation_p.P67L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	67	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCTGGAGTGTCCACTTAATGTC	0.545																																						uc001soj.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(199-201)CCA>TTA		methyl-CpG binding domain protein 6																																				SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57918588_57918589CC>TT	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		Exception_encountered	12.37:g.57918588_57918589delinsTT	ENSP00000347896:p.Pro67Leu					MBD6_uc001sok.1_5'Flank|MBD6_uc001sol.1_5'Flank	p.P67L	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			4	423_424	+			67			MBD.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	DNP	ENST00000355673.3	37	c.199_200CC>TT	CCDS8944.1																																																																																				0.545	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1				21	52	0	0	0	0.004672	0	21	52		
AGAP2-AS1	100130776	broad.mit.edu	37	12	58121176	58121176	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:58121176C>T	ENST00000542466.2	+	2	537	c.401C>T	c.(400-402)tCg>tTg	p.S134L	AGAP2_ENST00000547588.1_Missense_Mutation_p.R1016Q|RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Missense_Mutation_p.R660Q					AGAP2 antisense RNA 1																		GGCACGGCCTCGCGTGTCGCT	0.667																																						uc001spq.2		NaN																	0				central_nervous_system(3)|breast(2)	5						c.(3046-3048)CGA>CAA		centaurin, gamma 1 isoform PIKE-L							38.0	33.0	35.0					12																	58121176		2202	4300	6502	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58121176C>T	BC039697, BC069024		12q14.1	2013-05-30			ENSG00000255737	ENSG00000255737		"""Long non-coding RNAs"""	48633	non-coding RNA	RNA, long non-coding							Standard	NR_027032		Approved				OTTHUMG00000170286	ENST00000542466.2:c.401C>T	12.37:g.58121176C>T	ENSP00000437523:p.Ser134Leu					AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Missense_Mutation_p.R1015Q|AGAP2_uc001spr.2_Missense_Mutation_p.R660Q|LOC100130776_uc001sps.3_Missense_Mutation_p.S134L	p.R1016Q	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			17	3047	-			1016			Arf-GAP.			Missense_Mutation	SNP	ENST00000542466.2	37	c.3047G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.42|11.42	1.634595|1.634595	0.29068|0.29068	.|.	.|.	ENSG00000135439|ENSG00000255737	ENST00000257897;ENST00000547588|ENST00000542466	T;T|.	0.41758|.	0.99;0.99|.	5.0|5.0	4.09|4.09	0.47781|0.47781	.|.	0.125321|.	0.56097|.	D|.	0.000037|.	T|T	0.20414|0.20414	0.0491|0.0491	N|N	0.03281|0.03281	-0.365|-0.365	0.34163|0.34163	D|D	0.668857|0.668857	B;B;B|B	0.33826|0.06786	0.019;0.373;0.427|0.001	B;B;B|B	0.17722|0.04013	0.011;0.011;0.019|0.001	T|T	0.26916|0.26916	-1.0089|-1.0089	10|7	0.05959|.	T|.	0.93|.	.|.	5.9981|5.9981	0.19505|0.19505	0.0:0.7433:0.0:0.2567|0.0:0.7433:0.0:0.2567	.|.	660;1016;1016|134	Q99490-2;F8VVT9;Q99490|B7Z718	.;.;AGAP2_HUMAN|.	Q|L	660;1016|134	ENSP00000257897:R660Q;ENSP00000449241:R1016Q|.	ENSP00000257897:R660Q|.	R|S	-|+	2|2	0|0	AGAP2|RP11-571M6.6	56407443|56407443	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	1.260000|1.260000	0.32968|0.32968	2.480000|2.480000	0.83734|0.83734	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.667	AGAP2-AS1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000408368.1				7	11	0	0	0	0.001984	0	7	11		
TMEM5	10329	broad.mit.edu	37	12	64199128	64199128	+	Missense_Mutation	SNP	G	G	A	rs373899387		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:64199128G>A	ENST00000261234.6	+	5	1016	c.858G>A	c.(856-858)atG>atA	p.M286I	TMEM5_ENST00000537373.1_Missense_Mutation_p.M26I	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	286						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGGCACTAATGAACATTTTGA	0.368																																						uc001srq.1		NaN																	0					0						c.(856-858)ATG>ATA		transmembrane protein 5		G	ILE/MET	0,4406		0,0,2203	116.0	117.0	117.0		858	5.0	1.0	12		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM5	NM_014254.1	10	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	286/444	64199128	1,13005	2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64199128G>A	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.858G>A	12.37:g.64199128G>A	ENSP00000261234:p.Met286Ile					TMEM5_uc001srr.1_Missense_Mutation_p.M183I|TMEM5_uc001srs.1_Missense_Mutation_p.M26I	p.M286I	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	5	962	+		Myeloproliferative disorder(1001;0.0255)	286			Extracellular (Potential).		A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.858G>A	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878430	0.51801	0.0	1.16E-4	ENSG00000118600	ENST00000261234;ENST00000537373	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.61763	0.2373	M	0.74881	2.28	0.58432	D	0.999999	P;P	0.42941	0.655;0.794	B;B	0.43052	0.178;0.406	T	0.64626	-0.6363	8	.	.	.	-21.2105	14.9832	0.71327	0.0:0.1429:0.8571:0.0	.	26;286	G3V1K2;Q9Y2B1	.;TMEM5_HUMAN	I	286;26	.	.	M	+	3	0	TMEM5	62485395	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	5.200000	0.65158	2.530000	0.85305	0.655000	0.94253	ATG		0.368	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1		NM_014254		22	50	0	0	0	0.01892	0	22	50		
NAP1L1	4673	broad.mit.edu	37	12	76447574	76447574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:76447574C>T	ENST00000261182.8	-	9	1232	c.746G>A	c.(745-747)gGa>gAa	p.G249E	NAP1L1_ENST00000548044.1_Missense_Mutation_p.G208E|NAP1L1_ENST00000542344.1_Missense_Mutation_p.G207E|NAP1L1_ENST00000393263.3_Missense_Mutation_p.G249E|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G181E|NAP1L1_ENST00000535020.2_Missense_Mutation_p.G249E|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G186E|NAP1L1_ENST00000544816.1_Missense_Mutation_p.G66E|NAP1L1_ENST00000549596.1_Missense_Mutation_p.G249E|NAP1L1_ENST00000552342.1_Missense_Mutation_p.G260E|NAP1L1_ENST00000547993.1_Missense_Mutation_p.G66E	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	249					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AATTTCTGGTCCATCAAAAGA	0.323																																						uc001sxw.2		NaN																	0				ovary(1)|skin(1)	2						c.(745-747)GGA>GAA		nucleosome assembly protein 1-like 1							73.0	73.0	73.0					12																	76447574		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76447574C>T		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.746G>A	12.37:g.76447574C>T	ENSP00000261182:p.Gly249Glu					NAP1L1_uc001sxv.2_Missense_Mutation_p.G207E|NAP1L1_uc001sxz.2_Missense_Mutation_p.G180E|NAP1L1_uc001sxx.2_Missense_Mutation_p.G249E|NAP1L1_uc001sxy.2_Missense_Mutation_p.G186E|NAP1L1_uc010sty.1_Missense_Mutation_p.G206E|NAP1L1_uc010stz.1_Missense_Mutation_p.G66E|NAP1L1_uc010sua.1_Missense_Mutation_p.G249E|NAP1L1_uc001syb.2_Missense_Mutation_p.G249E|NAP1L1_uc001sya.2_Missense_Mutation_p.G207E|NAP1L1_uc001syc.2_Missense_Mutation_p.G260E	p.G249E	NM_139207	NP_631946	P55209	NP1L1_HUMAN			9	1158	-		Colorectal(145;0.09)	249					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.746G>A	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517424	0.85495	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61980	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.06	5.58	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	M	0.72576	2.205	0.80722	D	1	D;D;D;D;D;D;P	0.89917	0.999;1.0;0.999;0.998;0.994;0.992;0.483	D;D;D;D;D;D;B	0.79108	0.985;0.992;0.985;0.992;0.912;0.968;0.306	T	0.75800	-0.3190	10	0.34782	T	0.22	.	14.2547	0.66043	0.0:0.9287:0.0:0.0713	.	249;207;260;249;181;186;249	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	E	249;243;249;181;186;66;207;249;249;66;260;208;222;249;208	ENSP00000261182:G249E;ENSP00000450236:G243E;ENSP00000376947:G249E;ENSP00000409795:G181E;ENSP00000448167:G186E;ENSP00000437507:G66E;ENSP00000444759:G207E;ENSP00000445008:G249E;ENSP00000447793:G249E;ENSP00000448007:G66E;ENSP00000447196:G260E;ENSP00000449649:G208E;ENSP00000448133:G222E;ENSP00000448764:G249E;ENSP00000446787:G208E	ENSP00000261182:G249E	G	-	2	0	NAP1L1	74733841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	1.364000	0.46038	0.644000	0.83932	GGA		0.323	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3		NM_139207		8	24	0	0	0	0.00308	0	8	24		
PPP1R12A	4659	broad.mit.edu	37	12	80328602	80328602	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:80328602T>A	ENST00000450142.2	-	1	376	c.110A>T	c.(109-111)aAg>aTg	p.K37M	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.K37M|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.K37M|RP11-84G21.1_ENST00000552885.1_RNA|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.K37M	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	37					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						ATCGTCGAACTTCACCTTGGT	0.637																																						uc001syz.2		NaN																	0				ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(109-111)AAG>ATG		protein phosphatase 1, regulatory (inhibitor)							42.0	48.0	46.0					12																	80328602		2042	4202	6244	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80328602T>A	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.110A>T	12.37:g.80328602T>A	ENSP00000389168:p.Lys37Met					PPP1R12A_uc001sza.2_Missense_Mutation_p.K37M|PPP1R12A_uc010sud.1_Missense_Mutation_p.K37M|PPP1R12A_uc001szb.2_Missense_Mutation_p.K37M|PPP1R12A_uc001szc.2_Missense_Mutation_p.K37M	p.K37M	NM_002480	NP_002471	O14974	MYPT1_HUMAN			1	377	-			37					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.110A>T	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033622	0.75504	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000550107;ENST00000547330	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.01	3.86	0.44501	Ankyrin repeat-containing domain (1);	0.156299	0.56097	D	0.000025	T	0.60996	0.2312	L	0.60455	1.87	0.80722	D	1	D;B;P;D	0.65815	0.992;0.24;0.855;0.995	D;B;P;D	0.74348	0.983;0.347;0.489;0.973	T	0.61992	-0.6948	10	0.87932	D	0	.	9.3024	0.37853	0.0:0.0818:0.0:0.9182	.	37;37;37;37	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	M	37	ENSP00000261207:K37M;ENSP00000389168:K37M;ENSP00000416769:K37M;ENSP00000446855:K37M;ENSP00000446816:K37M	ENSP00000261207:K37M	K	-	2	0	PPP1R12A	78852733	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.139000	0.77314	0.930000	0.37217	0.533000	0.62120	AAG		0.637	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2		NM_002480		5	3	0	0	0	0.001168	0	5	3		
TMCC3	57458	broad.mit.edu	37	12	94965478	94965478	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:94965478C>T	ENST00000261226.4	-	4	1298	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	TMCC3_ENST00000551457.1_Silent_p.K358K	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	389						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGAGCTCCAGCTTAGAAATGC	0.547																																						uc001tdj.2		NaN																	0				ovary(1)|skin(1)	2						c.(1165-1167)AAG>AAA		transmembrane and coiled-coil domain family 3							144.0	135.0	138.0					12																	94965478		2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94965478C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1167G>A	12.37:g.94965478C>T						TMCC3_uc001tdi.2_Silent_p.K358K	p.K389K	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			4	1285	-			389			Potential.		Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.1167G>A	CCDS31877.1																																																																																				0.547	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1		NM_020698		22	58	0	0	0	0.016522	0	22	58		
CDK17	5128	broad.mit.edu	37	12	96728597	96728597	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:96728597T>A	ENST00000261211.3	-	2	621	c.18A>T	c.(16-18)agA>agT	p.R6S	CDK17_ENST00000542666.1_Intron|CDK17_ENST00000543119.2_Missense_Mutation_p.R6S	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	6					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GGGATAGCCTTCTCTTAAATT	0.338																																						uc001tep.1		NaN																	0				ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						c.(16-18)AGA>AGT		PCTAIRE protein kinase 2							101.0	98.0	99.0					12																	96728597		2203	4300	6503	SO:0001583	missense	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96728597T>A		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.18A>T	12.37:g.96728597T>A	ENSP00000261211:p.Arg6Ser					CDK17_uc009ztk.2_Missense_Mutation_p.R6S|CDK17_uc010svb.1_Intron	p.R6S	NM_002595	NP_002586	Q00537	CDK17_HUMAN			2	507	-			6					A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	c.18A>T	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.959204	0.53400	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000551816;ENST00000552496;ENST00000548734;ENST00000552262	T;T;T;T;T	0.74842	-0.85;-0.88;0.14;0.09;0.14	5.64	3.28	0.37604	.	0.048547	0.85682	D	0.000000	T	0.72700	0.3493	M	0.71206	2.165	0.80722	D	1	B;B	0.27117	0.168;0.168	B;B	0.32465	0.146;0.146	T	0.69533	-0.5120	10	0.87932	D	0	-17.6946	9.2032	0.37272	0.0:0.2778:0.0:0.7222	.	6;6	A8K1U6;Q00537	.;CDK17_HUMAN	S	6;6;6;6;26;6	ENSP00000261211:R6S;ENSP00000444459:R6S;ENSP00000450058:R6S;ENSP00000447282:R6S;ENSP00000447441:R26S	ENSP00000261211:R6S	R	-	3	2	CDK17	95252728	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.577000	0.23758	0.429000	0.26202	0.533000	0.62120	AGA		0.338	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1		NM_002595		5	14	0	0	0	0.001168	0	5	14		
SACS	26278	broad.mit.edu	37	13	23906653	23906653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:23906653G>A	ENST00000382292.3	-	9	11635	c.11362C>T	c.(11362-11364)Cgt>Tgt	p.R3788C	SACS_ENST00000402364.1_Missense_Mutation_p.R3038C|SACS_ENST00000382298.3_Missense_Mutation_p.R3788C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3788					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.R3641C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGAAAACGAAATTCCCTT	0.383																																						uc001uon.2		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(11362-11364)CGT>TGT		sacsin							96.0	87.0	90.0					13																	23906653		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906653G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11362C>T	13.37:g.23906653G>A	ENSP00000371729:p.Arg3788Cys					SACS_uc001uoo.2_Missense_Mutation_p.R3641C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.R3788C	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	11951	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3788					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.11362C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321896	0.41096	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88586	-2.25;-2.4;-2.25	5.67	5.67	0.87782	.	0.120124	0.56097	D	0.000033	D	0.91446	0.7300	L	0.36672	1.1	0.50039	D	0.999849	D	0.89917	1.0	D	0.85130	0.997	D	0.92035	0.5636	10	0.87932	D	0	.	14.5955	0.68403	0.0:0.0:0.8541:0.1459	.	3788	Q9NZJ4	SACS_HUMAN	C	3788;3038;3788	ENSP00000371729:R3788C;ENSP00000385844:R3038C;ENSP00000371735:R3788C	ENSP00000371729:R3788C	R	-	1	0	SACS	22804653	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	6.561000	0.73955	2.673000	0.90976	0.467000	0.42956	CGT		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		28	48	0	0	0	0.005443	0	28	48		
MTMR6	9107	broad.mit.edu	37	13	25827950	25827950	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:25827950T>C	ENST00000381801.5	-	11	2059	c.1298A>G	c.(1297-1299)cAg>cGg	p.Q433R	MTMR6_ENST00000540661.1_Missense_Mutation_p.Q433R	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	433	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTTTCCAAACTGGCATGAATG	0.408																																						uc001uqf.3		NaN																	0				ovary(2)|skin(2)	4						c.(1297-1299)CAG>CGG		myotubularin related protein 6							70.0	73.0	72.0					13																	25827950		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25827950T>C	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1298A>G	13.37:g.25827950T>C	ENSP00000371221:p.Gln433Arg					MTMR6_uc001uqe.1_Missense_Mutation_p.Q433R	p.Q433R	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	11	1617	-		Lung SC(185;0.0225)|Breast(139;0.0351)	433			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.1298A>G	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617820	0.87359	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.92752	-3.1;-3.1	5.86	5.86	0.93980	Myotubularin phosphatase domain (1);	0.103876	0.64402	D	0.000002	D	0.93913	0.8052	L	0.48218	1.51	0.80722	D	1	D;P	0.69078	0.997;0.83	D;B	0.67382	0.951;0.439	D	0.92712	0.6184	10	0.30078	T	0.28	.	16.2507	0.82485	0.0:0.0:0.0:1.0	.	433;433	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	R	433	ENSP00000443161:Q433R;ENSP00000371221:Q433R	ENSP00000371221:Q433R	Q	-	2	0	MTMR6	24725950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.988000	0.88194	2.237000	0.73441	0.528000	0.53228	CAG		0.408	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1		NM_004685		24	48	0	0	0	0.016522	0	24	48		
KBTBD6	89890	broad.mit.edu	37	13	41706188	41706188	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:41706188C>T	ENST00000379485.1	-	1	694	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E88K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	154										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CGCACATATTCCAGCTGTAGC	0.582																																						uc001uxu.1		NaN																	0				ovary(1)|skin(1)	2						c.(460-462)GAA>AAA		kelch repeat and BTB (POZ) domain-containing 6							92.0	84.0	87.0					13																	41706188		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41706188C>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.460G>A	13.37:g.41706188C>T	ENSP00000368799:p.Glu154Lys					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E88K|uc001uxv.1_5'Flank	p.E154K	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	749	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	154					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.460G>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	16.93	3.259009	0.59321	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.66638	-0.22;-0.22	3.71	3.71	0.42584	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.060749	0.64402	D	0.000005	T	0.68979	0.3060	L	0.37466	1.105	0.49582	D	0.999803	D;D	0.63046	0.992;0.982	D;D	0.64237	0.923;0.912	T	0.63603	-0.6600	10	0.18276	T	0.48	.	13.3148	0.60401	0.0:1.0:0.0:0.0	.	88;154	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	154;88	ENSP00000368799:E154K;ENSP00000444326:E88K	ENSP00000368799:E154K	E	-	1	0	KBTBD6	40604188	1.000000	0.71417	0.997000	0.53966	0.102000	0.19082	4.606000	0.61126	2.089000	0.63090	0.313000	0.20887	GAA		0.582	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1		NM_152903		17	23	0	0	0	0.008871	0	17	23		
RNF219	79596	broad.mit.edu	37	13	79190511	79190511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:79190511G>C	ENST00000282003.6	-	6	1443	c.1385C>G	c.(1384-1386)cCa>cGa	p.P462R	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	462	Ser-rich.			P -> T (in Ref. 1; CAB66586). {ECO:0000305}.			zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCCTGTCTTTGGGGAAGAAAA	0.333																																						uc001vkw.1		NaN																	0				large_intestine(2)	2						c.(1384-1386)CCA>CGA		ring finger protein 219							36.0	38.0	38.0					13																	79190511		2203	4297	6500	SO:0001583	missense	79596						zinc ion binding	g.chr13:79190511G>C	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1385C>G	13.37:g.79190511G>C	ENSP00000282003:p.Pro462Arg					uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.P272R|RNF219_uc010afc.2_Intron	p.P462R	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	6	1444	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	462	P -> T (in Ref. 1; CAB66586).		Ser-rich.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.1385C>G	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486524	0.26686	.	.	ENSG00000152193	ENST00000282003	T	0.13307	2.6	5.71	4.81	0.61882	.	0.673784	0.14467	N	0.317848	T	0.11580	0.0282	L	0.40543	1.245	0.22468	N	0.999076	B	0.29805	0.257	B	0.26310	0.068	T	0.10520	-1.0626	10	0.44086	T	0.13	-17.2474	8.5472	0.33429	0.0:0.1388:0.5315:0.3296	.	462	Q5W0B1	RN219_HUMAN	R	462	ENSP00000282003:P462R	ENSP00000282003:P462R	P	-	2	0	RNF219	78088512	0.998000	0.40836	0.980000	0.43619	0.994000	0.84299	2.488000	0.45276	2.694000	0.91930	0.655000	0.94253	CCA		0.333	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1		NM_024546		9	17	0	0	0	0.008291	0	9	17		
GPR18	2841	broad.mit.edu	37	13	99908094	99908094	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:99908094G>C	ENST00000340807.3	-	3	589	c.33C>G	c.(31-33)gtC>gtG	p.V11V	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Silent_p.V11V|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Silent_p.V11V			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	11					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGTTAAAAGGGACAGGTTGAT	0.323																																						uc001voe.3		NaN																	0					0						c.(31-33)GTC>GTG		G protein-coupled receptor 18	Glycine(DB00145)						138.0	135.0	136.0					13																	99908094		2203	4300	6503	SO:0001819	synonymous_variant	2841					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99908094G>C	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.33C>G	13.37:g.99908094G>C						UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Silent_p.V11V	p.V11V	NM_005292	NP_005283	Q14330	GPR18_HUMAN			3	534	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		11			Extracellular (Potential).		Q6GTM3|Q96HI6|Q9H2L2	Silent	SNP	ENST00000340807.3	37	c.33C>G	CCDS9491.1																																																																																				0.323	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1				13	37	0	0	0	0.020292	0	13	37		
OR11H4	390442	broad.mit.edu	37	14	20711591	20711591	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:20711591C>G	ENST00000315409.2	+	1	694	c.641C>G	c.(640-642)tCc>tGc	p.S214C		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ACTCAGAGCTCCCTTGTCCTC	0.443																																						uc010tld.1		NaN																	0				ovary(1)	1						c.(640-642)TCC>TGC		olfactory receptor, family 11, subfamily H,							171.0	164.0	167.0					14																	20711591		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711591C>G		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.641C>G	14.37:g.20711591C>G	ENSP00000318997:p.Ser214Cys						p.S214C	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	641	+	all_cancers(95;0.000888)		214			Helical; Name=5; (Potential).		B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.641C>G	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488450	0.44249	.	.	ENSG00000176198	ENST00000315409	T	0.37752	1.18	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000078	T	0.46034	0.1372	M	0.63843	1.955	0.27257	N	0.958733	P	0.37594	0.601	P	0.46796	0.527	T	0.43114	-0.9411	10	0.46703	T	0.11	-19.8137	13.3833	0.60780	0.0:1.0:0.0:0.0	.	214	Q8NGC9	O11H4_HUMAN	C	214	ENSP00000318997:S214C	ENSP00000318997:S214C	S	+	2	0	OR11H4	19781431	0.002000	0.14202	0.997000	0.53966	0.789000	0.44602	1.554000	0.36266	2.529000	0.85273	0.655000	0.94253	TCC		0.443	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1				21	159	0	0	0	0.008871	0	21	159		
ACIN1	22985	broad.mit.edu	37	14	23559767	23559767	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:23559767G>A	ENST00000262710.1	-	3	781	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	ACIN1_ENST00000457657.1_Silent_p.L152L|ACIN1_ENST00000555053.1_Silent_p.L152L|ACIN1_ENST00000605057.1_Silent_p.L94L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	152	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCACGTTCCAGACGCTGCCTA	0.438																																						uc001wit.3		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(454-456)CTG>TTG		apoptotic chromatin condensation inducer 1							90.0	85.0	87.0					14																	23559767		2203	4300	6503	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23559767G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.454C>T	14.37:g.23559767G>A						ACIN1_uc010akg.2_Silent_p.L152L|ACIN1_uc010tnj.1_Silent_p.L152L	p.L152L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	3	782	-	all_cancers(95;1.36e-05)		152			Glu-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.454C>T	CCDS9587.1																																																																																				0.438	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977		7	47	0	0	0	0.001984	0	7	47		
ARHGAP5	394	broad.mit.edu	37	14	32562941	32562941	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:32562941T>C	ENST00000345122.3	+	2	3381	c.3066T>C	c.(3064-3066)caT>caC	p.H1022H	ARHGAP5_ENST00000539826.2_Silent_p.H1022H|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.H1022H|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.H1022H	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1022					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCCTATTCATAGTACCCCAA	0.403																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(3064-3066)CAT>CAC		Rho GTPase activating protein 5 isoform b							109.0	106.0	107.0					14																	32562941		2203	4300	6503	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562941T>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3066T>C	14.37:g.32562941T>C						ARHGAP5_uc001wrm.2_Silent_p.H1022H|ARHGAP5_uc001wrn.2_Silent_p.H1022H|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.H1022H	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3305	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1022					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.3066T>C	CCDS32062.1																																																																																				0.403	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		15	65	0	0	0	0.003163	0	15	65		
AKAP6	9472	broad.mit.edu	37	14	33291834	33291834	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:33291834C>A	ENST00000280979.4	+	13	4985	c.4815C>A	c.(4813-4815)agC>agA	p.S1605R	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1605	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCTATAAAAGCAATGAAGATC	0.428																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NaN																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4813-4815)AGC>AGA		A-kinase anchor protein 6							67.0	69.0	69.0					14																	33291834		2203	4299	6502	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291834C>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4815C>A	14.37:g.33291834C>A	ENSP00000280979:p.Ser1605Arg						p.S1605R	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4985	+	Breast(36;0.0388)|Prostate(35;0.15)		1605			Ser-rich.		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4815C>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693098	0.68271	.	.	ENSG00000151320	ENST00000280979	T	0.13657	2.57	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.07443	-1.0772	10	0.87932	D	0	-11.3379	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1605	Q13023	AKAP6_HUMAN	R	1605	ENSP00000280979:S1605R	ENSP00000280979:S1605R	S	+	3	2	AKAP6	32361585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.655000	0.46707	2.843000	0.97960	0.650000	0.86243	AGC		0.428	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2		NM_004274		9	37	1	0	0.000274275	0.004482	0.000298715	9	37		
SYNE2	23224	broad.mit.edu	37	14	64457735	64457735	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:64457735A>G	ENST00000344113.4	+	21	2760	c.2548A>G	c.(2548-2550)Atg>Gtg	p.M850V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.M850V|SYNE2_ENST00000554584.1_Missense_Mutation_p.M850V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	850					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGCTGAAGATGGAAGAATC	0.413																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(2548-2550)ATG>GTG		spectrin repeat containing, nuclear envelope 2							82.0	79.0	80.0					14																	64457735		1852	4098	5950	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64457735A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2548A>G	14.37:g.64457735A>G	ENSP00000341781:p.Met850Val					SYNE2_uc001xgl.2_Missense_Mutation_p.M850V	p.M850V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	21	2778	+			850			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.2548A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	4.279	0.050964	0.08243	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.53857	0.97;0.97;0.6	6.06	-3.47	0.04753	.	0.935443	0.08832	N	0.887207	T	0.13457	0.0326	N	0.00538	-1.39	0.20074	N	0.999933	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19910	-1.0291	10	0.18276	T	0.48	.	0.7338	0.00961	0.3713:0.2294:0.2398:0.1596	.	850;850	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	850	ENSP00000350719:M850V;ENSP00000341781:M850V;ENSP00000452570:M850V	ENSP00000261678:M850V	M	+	1	0	SYNE2	63527488	0.939000	0.31865	0.001000	0.08648	0.435000	0.31806	0.162000	0.16501	-0.417000	0.07461	-0.408000	0.06270	ATG		0.413	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		43	8	0	0	0	0.011902	0	43	8		
SPTB	6710	broad.mit.edu	37	14	65233430	65233430	+	Missense_Mutation	SNP	G	G	A	rs375155686		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:65233430G>A	ENST00000389721.5	-	31	6391	c.6359C>T	c.(6358-6360)tCt>tTt	p.S2120F	SPTB_ENST00000389720.3_Silent_p.V2103V|SPTB_ENST00000542895.1_Missense_Mutation_p.S2120F|SPTB_ENST00000389722.3_Intron|SPTB_ENST00000342835.4_5'Flank|SPTB_ENST00000556626.1_Intron	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2120					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGACAAACGAGACCAGAGACT	0.632																																						uc001xht.2		NaN																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(6358-6360)TCT>TTT		spectrin beta isoform b		G	PHE/SER,	1,4405	2.1+/-5.4	0,1,2202	170.0	160.0	163.0		6359,	4.8	0.4	14		163	0,8600		0,0,4300	no	missense,intron	SPTB	NM_000347.5,NM_001024858.2	155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	2120/2138,	65233430	1,13005	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65233430G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6359C>T	14.37:g.65233430G>A	ENSP00000374371:p.Ser2120Phe					SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron|SPTB_uc001xhu.2_Missense_Mutation_p.S2120F|SPTB_uc010aqi.2_Intron	p.S2120F	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	31	6413	-		all_lung(585;4.15e-09)	2120					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.6359C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.779132	0.49891	2.27E-4	0.0	ENSG00000070182	ENST00000389721;ENST00000542895	T;T	0.74209	-0.82;-0.82	4.78	4.78	0.61160	.	.	.	.	.	T	0.58595	0.2133	N	0.08118	0	0.23673	N	0.99715	P	0.42039	0.769	B	0.40534	0.332	T	0.56757	-0.7926	9	0.62326	D	0.03	.	13.4926	0.61405	0.0:0.0:1.0:0.0	.	2120	P11277	SPTB1_HUMAN	F	2120	ENSP00000374371:S2120F;ENSP00000443882:S2120F	ENSP00000374371:S2120F	S	-	2	0	SPTB	64303183	1.000000	0.71417	0.371000	0.25978	0.147000	0.21601	5.654000	0.67974	2.648000	0.89879	0.462000	0.41574	TCT		0.632	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1				126	35	0	0	0	0.01441	0	126	35		
GTF2A1	2957	broad.mit.edu	37	14	81662522	81662522	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:81662522G>A	ENST00000553612.1	-	6	945	c.542C>T	c.(541-543)tCa>tTa	p.S181L	GTF2A1_ENST00000434192.2_Missense_Mutation_p.S142L	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	181					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TAGAACCACTGACTGCTGAGG	0.423																																						uc001xvf.1		NaN																	0				breast(1)	1						c.(541-543)TCA>TTA		TFIIA alpha, p55 isoform 1							169.0	152.0	158.0					14																	81662522		2203	4300	6503	SO:0001583	missense	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81662522G>A	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.542C>T	14.37:g.81662522G>A	ENSP00000452454:p.Ser181Leu					GTF2A1_uc010atb.1_Missense_Mutation_p.S131L|GTF2A1_uc001xvg.1_Missense_Mutation_p.S142L	p.S181L	NM_015859	NP_056943	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	6	974	-			181					Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	c.542C>T	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999310	0.54147	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.44083	0.93;0.93	5.38	5.38	0.77491	.	0.185727	0.48767	D	0.000164	T	0.38453	0.1041	L	0.53249	1.67	0.32147	N	0.584719	B	0.26708	0.157	B	0.22880	0.042	T	0.44636	-0.9315	10	0.25106	T	0.35	-9.434	14.8097	0.69985	0.0:0.0:0.8553:0.1447	.	181	P52655	TF2AA_HUMAN	L	181;142;142	ENSP00000452454:S181L;ENSP00000409492:S142L	ENSP00000298173:S181L	S	-	2	0	GTF2A1	80732275	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.032000	0.49736	2.503000	0.84419	0.561000	0.74099	TCA		0.423	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1		NM_015859		55	21	0	0	0	0.01441	0	55	21		
AK7	122481	broad.mit.edu	37	14	96949491	96949491	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:96949491G>A	ENST00000267584.4	+	16	1953	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	637	Glu-rich.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E637K(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGCTGCTGAGGAAGCAGAACG	0.567																																						uc001yfn.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1909-1911)GAA>AAA		adenylate kinase 7							83.0	59.0	67.0					14																	96949491		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96949491G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1909G>A	14.37:g.96949491G>A	ENSP00000267584:p.Glu637Lys						p.E637K	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	16	1953	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	637			Potential.|Glu-rich.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.1909G>A	CCDS9945.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.588|5.588	0.293328|0.293328	0.10567|0.10567	.|.	.|.	ENSG00000140057|ENSG00000140057	ENST00000267584|ENST00000554706	T|.	0.55052|.	0.54|.	5.41|5.41	2.49|2.49	0.30216|0.30216	.|.	0.445400|.	0.27084|.	N|.	0.021015|.	T|T	0.32164|0.32164	0.0820|0.0820	N|N	0.13272|0.13272	0.32|0.32	0.45634|0.45634	D|D	0.998569|0.998569	B|.	0.02656|.	0.0|.	B|.	0.15052|.	0.012|.	T|T	0.04178|0.04178	-1.0971|-1.0971	10|5	0.13108|.	T|.	0.6|.	-17.1481|-17.1481	4.2443|4.2443	0.10663|0.10663	0.3879:0.1646:0.4474:0.0|0.3879:0.1646:0.4474:0.0	.|.	637|.	Q96M32|.	KAD7_HUMAN|.	K|E	637|58	ENSP00000267584:E637K|.	ENSP00000267584:E637K|.	E|G	+|+	1|2	0|0	AK7|AK7	96019244|96019244	0.808000|0.808000	0.29022|0.29022	0.008000|0.008000	0.14137|0.14137	0.391000|0.391000	0.30476|0.30476	0.212000|0.212000	0.17497|0.17497	0.228000|0.228000	0.21019|0.21019	-0.143000|-0.143000	0.13931|0.13931	GAA|GGA		0.567	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1				16	8	0	0	0	0.003163	0	16	8		
HSP90AA1	3320	broad.mit.edu	37	14	102550300	102550300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:102550300C>T	ENST00000216281.8	-	7	1373	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D211N|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.D512N	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	390					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCCTCCGAGTCTACCACCCCT	0.363																																						uc001yku.3		NaN																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(1168-1170)GAC>AAC		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						37.0	41.0	40.0					14																	102550300		2202	4298	6500	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102550300C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1168G>A	14.37:g.102550300C>T	ENSP00000216281:p.Asp390Asn					HSP90AA1_uc001ykv.3_Missense_Mutation_p.D512N|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D211N|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D379N	p.D390N	NM_005348	NP_005339	P07900	HS90A_HUMAN			7	1358	-			390					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1168G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.987483	0.93106	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.19806	2.12;2.12;2.12	3.85	3.85	0.44370	Ribosomal protein S5 domain 2-type fold (1);	0.124211	0.51477	U	0.000096	T	0.68760	0.3036	H	0.99884	4.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.85746	0.1340	10	0.87932	D	0	.	15.7418	0.77905	0.0:1.0:0.0:0.0	.	211;512;390	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	N	390;512;211	ENSP00000216281:D390N;ENSP00000335153:D512N;ENSP00000396189:D211N	ENSP00000216281:D390N	D	-	1	0	HSP90AA1	101620053	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.760000	0.68793	1.868000	0.54150	0.561000	0.74099	GAC		0.363	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2		NM_005348		19	10	0	0	0	0.010504	0	19	10		
XRCC3	7517	broad.mit.edu	37	14	104174929	104174929	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:104174929G>A	ENST00000553264.1	-	3	919	c.123C>T	c.(121-123)ctC>ctT	p.L41L	AL049840.1_ENST00000429169.1_5'Flank|XRCC3_ENST00000352127.7_Silent_p.L41L|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000554913.1_Silent_p.L41L|XRCC3_ENST00000445556.1_Silent_p.L41L|XRCC3_ENST00000555055.1_Silent_p.L41L			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	41					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CGGGGCTGGAGAGGTTGGTCA	0.507								Direct reversal of damage;Homologous recombination																														uc001yny.3		NaN																	0					0						c.(121-123)CTC>CTT	Direct_reversal_of_damage|Homologous_recombination	X-ray repair cross complementing protein 3							112.0	98.0	103.0					14																	104174929		2203	4300	6503	SO:0001819	synonymous_variant	7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104174929G>A	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.123C>T	14.37:g.104174929G>A						XRCC3_uc001ynx.3_Silent_p.L41L|XRCC3_uc001ynz.3_Silent_p.L41L|XRCC3_uc001yoa.3_Silent_p.L41L|XRCC3_uc001yob.1_RNA	p.L41L	NM_005432	NP_005423	O43542	XRCC3_HUMAN		Epithelial(152;0.239)	5	503	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	41					O43568|Q9BU18	Silent	SNP	ENST00000553264.1	37	c.123C>T	CCDS9984.1																																																																																				0.507	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1		NM_005432		22	8	0	0	0	0.014323	0	22	8		
HERC2	8924	broad.mit.edu	37	15	28460863	28460863	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:28460863C>T	ENST00000261609.7	-	39	6222	c.6114G>A	c.(6112-6114)caG>caA	p.Q2038Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCCGCATACCTGCGGCGTGA	0.627																																						uc001zbj.2		NaN																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(6112-6114)CAG>CAA		hect domain and RLD 2							31.0	31.0	31.0					15																	28460863		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28460863C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6114G>A	15.37:g.28460863C>T							p.Q2038Q	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	39	6220	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2038						Silent	SNP	ENST00000261609.7	37	c.6114G>A	CCDS10021.1																																																																																				0.627	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667		23	24	0	0	0	0.016522	0	23	24		
APBA2	321	broad.mit.edu	37	15	29393827	29393827	+	Missense_Mutation	SNP	G	G	A	rs142481200		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:29393827G>A	ENST00000558402.1	+	11	1963	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	APBA2_ENST00000558259.1_Missense_Mutation_p.R455H|APBA2_ENST00000558330.1_Missense_Mutation_p.R443H|APBA2_ENST00000411764.1_Missense_Mutation_p.R443H|APBA2_ENST00000561069.1_Missense_Mutation_p.R455H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	455	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.R455H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CACGCCTTGCGTACCATCTCC	0.587																																						uc001zck.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1363-1365)CGT>CAT		amyloid beta A4 precursor protein-binding,		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	103.0	72.0	82.0		1328,1364	4.3	1.0	15	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	443/738,455/750	29393827	1,13005	2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29393827G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1364G>A	15.37:g.29393827G>A	ENSP00000453293:p.Arg455His					APBA2_uc010azj.2_Missense_Mutation_p.R443H|APBA2_uc010uat.1_Missense_Mutation_p.R443H|APBA2_uc001zcl.2_Missense_Mutation_p.R443H|APBA2_uc001zcm.1_Missense_Mutation_p.R147H	p.R455H	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	9	1571	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	455			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1364G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000935	0.93227	0.0	1.16E-4	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.21734	1.99	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.062060	0.64402	D	0.000014	T	0.37919	0.1021	L	0.41573	1.285	0.80722	D	1	D;D;D;P	0.89917	0.994;1.0;1.0;0.9	D;D;D;B	0.97110	0.913;0.996;1.0;0.362	T	0.16305	-1.0407	10	0.56958	D	0.05	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	443;147;443;455	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	H	443;455;147	ENSP00000409312:R443H	ENSP00000219865:R455H	R	+	2	0	APBA2	27181119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	CGT		0.587	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503		8	15	0	0	0	0.004482	0	8	15		
DISP2	85455	broad.mit.edu	37	15	40660107	40660107	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:40660107C>T	ENST00000267889.3	+	8	1881	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	598	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTCCGGCCTCACCACGAGCG	0.706																																						uc001zlk.1		NaN																	0				ovary(2)	2						c.(1792-1794)CTC>CTT		dispatched B							14.0	14.0	14.0					15																	40660107		2200	4294	6494	SO:0001819	synonymous_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40660107C>T	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1794C>T	15.37:g.40660107C>T							p.L598L	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	1883	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	598			Helical; (Potential).|SSD.		Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	c.1794C>T	CCDS10056.1																																																																																				0.706	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1		NM_033510		6	4	0	0	0	0.001168	0	6	4		
LCMT2	9836	broad.mit.edu	37	15	43622469	43622469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:43622469C>G	ENST00000305641.5	-	1	334	c.219G>C	c.(217-219)caG>caC	p.Q73H	ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_Intron|LCMT2_ENST00000567039.1_Intron	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	73					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCGCGCCAATCTGCTCCAAAA	0.682																																						uc001zrg.2		NaN																	0					0						c.(217-219)CAG>CAC		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						16.0	22.0	20.0					15																	43622469		2069	4138	6207	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43622469C>G	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.219G>C	15.37:g.43622469C>G	ENSP00000307214:p.Gln73His					LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.Q73H	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	423	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	73					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.219G>C	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	6.745	0.506298	0.12883	.	.	ENSG00000168806	ENST00000305641	T	0.23754	1.89	5.55	-1.58	0.08479	.	1.290950	0.05008	N	0.470371	T	0.21631	0.0521	L	0.38175	1.15	0.09310	N	0.999996	P	0.35628	0.513	B	0.42282	0.382	T	0.29058	-1.0024	10	0.45353	T	0.12	-3.1425	1.2319	0.01945	0.1333:0.2845:0.3044:0.2778	.	73	O60294	LCMT2_HUMAN	H	73	ENSP00000307214:Q73H	ENSP00000307214:Q73H	Q	-	3	2	LCMT2	41409761	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.241000	0.18065	-0.098000	0.12285	-0.345000	0.07892	CAG		0.682	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1		NM_014793		19	11	0	0	0	0.008871	0	19	11		
ODF3L1	161753	broad.mit.edu	37	15	76017546	76017546	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:76017546G>A	ENST00000332145.2	+	2	439	c.216G>A	c.(214-216)cgG>cgA	p.R72R	DNM1P35_ENST00000501931.1_RNA	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	72										kidney(1)|lung(1)	2						TGCATAGCCGGCACTCAGAGA	0.592																																						uc002bax.1		NaN																	0					0						c.(214-216)CGG>CGA		outer dense fiber of sperm tails 3-like 1							62.0	58.0	59.0					15																	76017546		2197	4294	6491	SO:0001819	synonymous_variant	161753							g.chr15:76017546G>A	BC039862	CCDS10285.1	15q23	2008-02-05			ENSG00000182950	ENSG00000182950			28735	protein-coding gene	gene with protein product							Standard	NM_175881		Approved	MGC48986	uc002bax.1	Q8IXM7	OTTHUMG00000142837	ENST00000332145.2:c.216G>A	15.37:g.76017546G>A							p.R72R	NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN			2	438	+			72						Silent	SNP	ENST00000332145.2	37	c.216G>A	CCDS10285.1																																																																																				0.592	ODF3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286473.1		NM_175881		4	58	0	0	0	0.014758	0	4	58		
ARNT2	9915	broad.mit.edu	37	15	80845057	80845057	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:80845057A>G	ENST00000303329.4	+	10	1196	c.1031A>G	c.(1030-1032)gAt>gGt	p.D344G	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Missense_Mutation_p.D333G|ARNT2_ENST00000527771.1_Missense_Mutation_p.D333G	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	344	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CATAACTCCGATGGAATCATC	0.473																																						uc002bfr.2		NaN																	0				central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(1030-1032)GAT>GGT		aryl hydrocarbon receptor nuclear translocator							167.0	142.0	150.0					15																	80845057		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845057A>G	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1031A>G	15.37:g.80845057A>G	ENSP00000307479:p.Asp344Gly					ARNT2_uc010unm.1_Missense_Mutation_p.D333G|ARNT2_uc002bfs.2_Missense_Mutation_p.D333G	p.D344G	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		10	1197	+			344			PAS 2.		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.1031A>G	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109568	0.77096	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.23754	1.89	5.45	5.45	0.79879	PAS (3);	0.155036	0.53938	D	0.000041	T	0.25382	0.0617	L	0.46819	1.47	0.80722	D	1	P	0.51791	0.948	B	0.39771	0.309	T	0.05989	-1.0852	10	0.87932	D	0	.	15.5107	0.75779	1.0:0.0:0.0:0.0	.	344	Q9HBZ2	ARNT2_HUMAN	G	333;344;344	ENSP00000307479:D344G	ENSP00000307479:D344G	D	+	2	0	ARNT2	78632112	1.000000	0.71417	0.789000	0.31954	0.988000	0.76386	8.519000	0.90563	2.060000	0.61445	0.383000	0.25322	GAT		0.473	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2				46	28	0	0	0	0.013114	0	46	28		
BTBD1	53339	broad.mit.edu	37	15	83710670	83710670	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:83710670G>C	ENST00000261721.4	-	4	874	c.672C>G	c.(670-672)ctC>ctG	p.L224L	RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000560015.1_5'Flank|BTBD1_ENST00000379403.2_Silent_p.L224L|RP11-382A20.7_ENST00000570202.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	224					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		AAACTGCACAGAGTGTATCTA	0.368																																						uc002bjn.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(670-672)CTC>CTG		BTB (POZ) domain containing 1 isoform 1							90.0	84.0	86.0					15																	83710670		2203	4300	6503	SO:0001819	synonymous_variant	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83710670G>C	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.672C>G	15.37:g.83710670G>C						BTBD1_uc002bjo.2_Silent_p.L224L	p.L224L	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	4	875	-			224					A6NMI8|Q9BX71|Q9NWN4	Silent	SNP	ENST00000261721.4	37	c.672C>G	CCDS10322.1																																																																																				0.368	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1				13	12	0	0	0	0.003163	0	13	12		
RGMA	56963	broad.mit.edu	37	15	93588760	93588760	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:93588760G>T	ENST00000329082.7	-	4	1092	c.821C>A	c.(820-822)gCc>gAc	p.A274D	RGMA_ENST00000538818.1_Missense_Mutation_p.A165D|RGMA_ENST00000543599.1_Missense_Mutation_p.A258D|RGMA_ENST00000557301.1_Missense_Mutation_p.A282D|RGMA_ENST00000556658.1_Missense_Mutation_p.A165D|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000425933.2_Missense_Mutation_p.A258D|RGMA_ENST00000542321.2_Missense_Mutation_p.A258D	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	274					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GATGTACTTGGCCTGGATCTC	0.617																																						uc002bss.1		NaN																	0					0						c.(820-822)GCC>GAC		RGM domain family, member A precursor							36.0	44.0	41.0					15																	93588760		2149	4239	6388	SO:0001583	missense	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93588760G>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.821C>A	15.37:g.93588760G>T	ENSP00000330005:p.Ala274Asp					RGMA_uc002bsq.1_Missense_Mutation_p.A258D|RGMA_uc010boi.1_Missense_Mutation_p.A165D|RGMA_uc002bsr.1_Missense_Mutation_p.A165D|RGMA_uc010urc.1_Missense_Mutation_p.A282D	p.A274D	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		4	1093	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		274					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	c.821C>A	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100361	0.94245	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	4.87	4.87	0.63330	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95119	0.8245	10	0.87932	D	0	-26.5529	17.6076	0.88042	0.0:0.0:1.0:0.0	.	282;274	G3V518;Q96B86	.;RGMA_HUMAN	D	258;258;274;258;165;282	ENSP00000442498:A258D;ENSP00000404442:A258D;ENSP00000330005:A274D;ENSP00000440025:A258D;ENSP00000442546:A165D;ENSP00000452126:A282D	ENSP00000330005:A274D	A	-	2	0	RGMA	91389764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.240000	0.73641	0.491000	0.48974	GCC		0.617	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1		NM_020211		27	9	1	0	3.1745e-13	0.008361	3.63744e-13	27	9		
FAM169B	283777	broad.mit.edu	37	15	98995120	98995120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:98995120C>T	ENST00000558256.1	-	5	553	c.304G>A	c.(304-306)Gag>Aag	p.E102K	FAM169B_ENST00000332908.4_Missense_Mutation_p.E102K	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	102										large_intestine(3)|lung(3)|urinary_tract(1)	7						GGGAATGTCTCACAGAAGTCC	0.572																																						uc002buk.1		NaN																	0					0						c.(304-306)GAG>AAG		hypothetical protein LOC283777							48.0	52.0	51.0					15																	98995120		2020	4189	6209	SO:0001583	missense	283777							g.chr15:98995120C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.304G>A	15.37:g.98995120C>T	ENSP00000453554:p.Glu102Lys						p.E102K	NM_182562	NP_872368	Q8N8A8	F169B_HUMAN			5	554	-			102					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.304G>A	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	6.573	0.474083	0.12521	.	.	ENSG00000185087	ENST00000332908	T	0.32988	1.43	4.69	2.7	0.31948	.	0.830043	0.11026	N	0.607774	T	0.22975	0.0555	L	0.27053	0.805	0.22940	N	0.998531	B	0.27068	0.167	B	0.24394	0.053	T	0.16958	-1.0385	10	0.41790	T	0.15	-12.3566	12.6863	0.56949	0.0:0.441:0.5589:0.0	.	102	Q8N8A8	F169B_HUMAN	K	102	ENSP00000332615:E102K	ENSP00000332615:E102K	E	-	1	0	FAM169B	96812643	0.273000	0.24181	0.628000	0.29241	0.082000	0.17680	0.246000	0.18160	1.207000	0.43291	0.650000	0.86243	GAG		0.572	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1		NM_182562		14	5	0	0	0	0.020292	0	14	5		
NLRC3	197358	broad.mit.edu	37	16	3613416	3613416	+	RNA	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:3613416C>G	ENST00000301749.7	-	0	1927				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCAGCCTCCCGTCCTCTGCC	0.667																																						uc010btn.2		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1522-1524)GGG>CGG		NOD3 protein							10.0	12.0	11.0					16																	3613416		2090	4205	6295			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613416C>G	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613416C>G							p.G508R	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			5	1933	-			508					Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37	c.1522G>C		.	.	.	.	.	.	.	.	.	.	C	14.11	2.438799	0.43326	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	5.09	3.14	0.36123	.	0.117229	0.56097	N	0.000021	D	0.91071	0.7190	.	.	.	0.28589	N	0.909767	B	0.30021	0.265	B	0.32724	0.151	D	0.85539	0.1214	9	0.59425	D	0.04	.	9.2495	0.37547	0.0:0.8229:0.0:0.1771	.	555	C9JLH9	.	R	508;508;508;555;490	ENSP00000301749:G508R;ENSP00000352039:G508R;ENSP00000414415:G555R;ENSP00000323897:G490R	ENSP00000301749:G508R	G	-	1	0	NLRC3	3553417	0.998000	0.40836	0.285000	0.24819	0.883000	0.51084	3.961000	0.56759	0.545000	0.28902	0.655000	0.94253	GGG		0.667	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene			NM_178844		3	0	0	0	0	0.004672	0	3	0		
ZNF267	10308	broad.mit.edu	37	16	31927008	31927008	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:31927008A>T	ENST00000300870.10	+	4	1647	c.1438A>T	c.(1438-1440)Att>Ttt	p.I480F		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	480					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TTCAAATCTTATTATGCATCA	0.363																																						uc002ecs.3		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1438-1440)ATT>TTT		zinc finger protein 267							58.0	64.0	62.0					16																	31927008		2197	4298	6495	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927008A>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1438A>T	16.37:g.31927008A>T	ENSP00000300870:p.Ile480Phe						p.I480F	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	1647	+			480			C2H2-type 6.		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1438A>T	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	9.858	1.195638	0.22037	.	.	ENSG00000185947	ENST00000300870	T	0.33865	1.39	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21387	0.0515	L	0.41079	1.255	0.09310	N	1	B	0.34255	0.445	B	0.19946	0.027	T	0.19516	-1.0303	9	0.66056	D	0.02	.	3.2538	0.06824	0.5486:0.4513:0.0:1.0E-4	.	480	Q14586	ZN267_HUMAN	F	480	ENSP00000300870:I480F	ENSP00000300870:I480F	I	+	1	0	ZNF267	31834509	0.000000	0.05858	0.077000	0.20336	0.063000	0.16089	0.104000	0.15313	0.407000	0.25591	0.397000	0.26171	ATT		0.363	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2		NM_003414		11	56	0	0	0	0.008291	0	11	56		
ABCC12	94160	broad.mit.edu	37	16	48130786	48130786	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:48130786G>A	ENST00000311303.3	-	22	3411	c.3066C>T	c.(3064-3066)ctC>ctT	p.L1022L	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1022	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAAACCACCTGAGAGCACAGT	0.463																																						uc002efc.1		NaN																	0				ovary(2)|skin(1)	3						c.(3064-3066)CTC>CTT		ATP-binding cassette protein C12							174.0	150.0	158.0					16																	48130786		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48130786G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3066C>T	16.37:g.48130786G>A						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.L1022L	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			22	3412	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1022			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3066C>T	CCDS10730.1																																																																																				0.463	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1		NM_033226		24	40	0	0	0	0.005443	0	24	40		
CDH16	1014	broad.mit.edu	37	16	66946442	66946442	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:66946442T>A	ENST00000299752.4	-	11	1517	c.1324A>T	c.(1324-1326)Atc>Ttc	p.I442F	CDH16_ENST00000565796.1_Missense_Mutation_p.I442F|CDH16_ENST00000568632.1_Missense_Mutation_p.I345F|CDH16_ENST00000570262.1_Missense_Mutation_p.I362F|CDH16_ENST00000394055.3_Missense_Mutation_p.I442F	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGATCATTGATATCTGTGACT	0.597																																						uc002eql.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1324-1326)ATC>TTC		cadherin 16 precursor							140.0	127.0	131.0					16																	66946442		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946442T>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1324A>T	16.37:g.66946442T>A	ENSP00000299752:p.Ile442Phe					CDH16_uc010cdy.2_Missense_Mutation_p.I442F|CDH16_uc002eqm.2_Missense_Mutation_p.I345F	p.I442F	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	11	1397	-		Ovarian(137;0.0563)	442			Extracellular (Potential).|Cadherin 4.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1324A>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171498	0.38315	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.66995	-0.24;-0.24	4.82	-0.592	0.11671	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.551331	0.17969	N	0.155937	T	0.65790	0.2725	M	0.85373	2.75	0.33755	D	0.621107	P;P;P	0.50272	0.919;0.933;0.788	B;B;B	0.42422	0.387;0.368;0.296	T	0.73196	-0.4059	10	0.87932	D	0	-10.0255	7.7674	0.28988	0.0:0.4667:0.0:0.5333	.	442;442;442	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	F	442;442;406	ENSP00000377619:I442F;ENSP00000299752:I442F	ENSP00000299752:I442F	I	-	1	0	CDH16	65503943	0.714000	0.27936	0.962000	0.40283	0.186000	0.23388	-0.273000	0.08548	-0.012000	0.14223	-0.366000	0.07423	ATC		0.597	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2		NM_004062		12	47	0	0	0	0.016723	0	12	47		
ESRP2	80004	broad.mit.edu	37	16	68269814	68269814	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:68269814C>G	ENST00000565858.1	-	1	221	c.135G>C	c.(133-135)ctG>ctC	p.L45L	ESRP2_ENST00000473183.2_Silent_p.L45L|RP11-96D1.6_ENST00000564147.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	45					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CGTCCGAGCCCAGGTCCCGTC	0.706																																						uc010cfa.1		NaN																	0				ovary(1)	1						c.(133-135)CTG>CTC		RNA binding motif protein 35B							19.0	15.0	17.0					16																	68269814		2195	4288	6483	SO:0001819	synonymous_variant	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68269814C>G	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.135G>C	16.37:g.68269814C>G						ESRP2_uc002evq.1_Silent_p.L45L	p.L45L	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN			1	323	-			45					Q8N6H8|Q8WZ15|Q9H6I4	Silent	SNP	ENST00000565858.1	37	c.135G>C																																																																																					0.706	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1		NM_024939		10	11	0	0	0	0.008291	0	10	11		
MTSS1L	92154	broad.mit.edu	37	16	70698173	70698173	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:70698173T>C	ENST00000338779.6	-	15	1925	c.1651A>G	c.(1651-1653)Act>Gct	p.T551A	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	551					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GGCAGGCCAGTGGCCGTGGGC	0.746																																						uc002ezj.2		NaN																	0				central_nervous_system(1)	1						c.(1651-1653)ACT>GCT		metastasis suppressor 1-like							17.0	20.0	19.0					16																	70698173		2180	4266	6446	SO:0001583	missense	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70698173T>C		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1651A>G	16.37:g.70698173T>C	ENSP00000341171:p.Thr551Ala						p.T551A	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN			15	1911	-			551					A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	c.1651A>G	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	T	3.704	-0.060862	0.07317	.	.	ENSG00000132613	ENST00000338779	T	0.29142	1.58	3.1	1.85	0.25348	.	1.351300	0.05600	U	0.576156	T	0.19167	0.0460	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24548	-1.0157	10	0.20519	T	0.43	-0.1812	4.5816	0.12262	0.0:0.1151:0.197:0.6878	.	551	Q765P7	MTSSL_HUMAN	A	551	ENSP00000341171:T551A	ENSP00000341171:T551A	T	-	1	0	MTSS1L	69255674	0.011000	0.17503	0.113000	0.21522	0.383000	0.30230	0.373000	0.20484	1.025000	0.39708	0.379000	0.24179	ACT		0.746	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3		NM_138383		9	23	0	0	0	0.004482	0	9	23		
CMIP	80790	broad.mit.edu	37	16	81712175	81712175	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:81712175G>C	ENST00000537098.3	+	10	1402	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	CMIP_ENST00000398040.4_Missense_Mutation_p.E291Q|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.E350Q	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	444						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CATGAGCATCGAGCTGGGCCC	0.711																																						uc002fgp.2		NaN																	0					0						c.(1330-1332)GAG>CAG		c-Maf-inducing protein isoform C-mip							10.0	13.0	12.0					16																	81712175		2037	4153	6190	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81712175G>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1330G>C	16.37:g.81712175G>C	ENSP00000446100:p.Glu444Gln					CMIP_uc002fgq.1_Missense_Mutation_p.E350Q|CMIP_uc010vnq.1_Missense_Mutation_p.E257Q|CMIP_uc002fgr.1_Missense_Mutation_p.E291Q	p.E444Q	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN			10	1402	+			410					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1330G>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446622	0.43429	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.05855	3.38;3.38	4.77	4.77	0.60923	.	0.207319	0.42294	D	0.000722	T	0.05364	0.0142	N	0.12182	0.205	0.45580	D	0.998521	B;B;B	0.16603	0.018;0.018;0.01	B;B;B	0.15484	0.009;0.013;0.009	T	0.43829	-0.9367	10	0.45353	T	0.12	.	17.7939	0.88564	0.0:0.0:1.0:0.0	.	291;350;444	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	Q	444;350;350;257	ENSP00000446100:E444Q;ENSP00000440401:E350Q	ENSP00000381120:E350Q	E	+	1	0	CMIP	80269676	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.603000	0.74145	2.205000	0.71048	0.561000	0.74099	GAG		0.711	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2		NM_030629		8	9	0	0	0	0.008291	0	8	9		
ZDHHC7	55625	broad.mit.edu	37	16	85011581	85011581	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:85011581G>C	ENST00000313732.4	-	6	920	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	ZDHHC7_ENST00000569488.1_5'UTR|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L227V	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	190					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						CAAAGGATCAGAGCATGGACT	0.428																																						uc002fiq.2		NaN																	0				large_intestine(1)	1						c.(568-570)CTG>GTG		zinc finger, DHHC-type containing 7 isoform 2							131.0	124.0	126.0					16																	85011581		2199	4300	6499	SO:0001583	missense	55625					integral to membrane	acyltransferase activity|protein binding|zinc ion binding	g.chr16:85011581G>C	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.568C>G	16.37:g.85011581G>C	ENSP00000315604:p.Leu190Val					ZDHHC7_uc010voi.1_Missense_Mutation_p.L227V|ZDHHC7_uc002fir.1_RNA	p.L190V	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN			6	921	-			190			Helical; (Potential).		D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4	37	c.568C>G	CCDS10950.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139587	0.56936	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.52295	0.67;0.67	5.1	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.66439	2.03	0.80722	D	1	P;D	0.60575	0.918;0.988	P;P	0.61722	0.749;0.893	T	0.64241	-0.6454	10	0.52906	T	0.07	-18.8671	13.0559	0.58980	0.0794:0.0:0.9206:0.0	.	227;190	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	V	190;227	ENSP00000315604:L190V;ENSP00000341681:L227V	ENSP00000315604:L190V	L	-	1	2	ZDHHC7	83569082	1.000000	0.71417	0.066000	0.19879	0.472000	0.32918	7.425000	0.80255	2.356000	0.79943	0.561000	0.74099	CTG		0.428	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1		NM_017740		45	41	0	0	0	0.01441	0	45	41		
TCF25	22980	broad.mit.edu	37	16	89958628	89958628	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:89958628C>T	ENST00000263346.8	+	6	698	c.642C>T	c.(640-642)ccC>ccT	p.P214P	TCF25_ENST00000263347.7_5'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	214					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P214L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTGTGTACCCCAAGTGCACAT	0.617																																						uc002fpb.2		NaN																	1	Substitution - Missense(1)		ovary(1)		0						c.(640-642)CCC>CCT		NULP1							88.0	55.0	66.0					16																	89958628		2197	4298	6495	SO:0001819	synonymous_variant	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89958628C>T	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.642C>T	16.37:g.89958628C>T						TCF25_uc002fpc.2_5'UTR	p.P214P	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	6	724	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	214					Q2MK75|Q9UPV3	Silent	SNP	ENST00000263346.8	37	c.642C>T	CCDS10987.1																																																																																				0.617	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2		NM_014972		4	21	0	0	0	0.001168	0	4	21		
ZNF594	84622	broad.mit.edu	37	17	5086957	5086957	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5086957C>G	ENST00000399604.4	-	1	735	c.595G>C	c.(595-597)Gtg>Ctg	p.V199L	ZNF594_ENST00000575779.1_Missense_Mutation_p.V199L			Q96JF6	ZN594_HUMAN	zinc finger protein 594	199			V -> G (in dbSNP:rs3853648).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTATGTCTCACCAGATTGGAG	0.393																																						uc010cla.1		NaN																	0				ovary(2)|skin(1)	3						c.(595-597)GTG>CTG		zinc finger protein 594							97.0	101.0	100.0					17																	5086957		2019	4206	6225	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086957C>G	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.595G>C	17.37:g.5086957C>G	ENSP00000382513:p.Val199Leu						p.V199L	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	751	-			199			C2H2-type 3.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.595G>C	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.754430	0.00663	.	.	ENSG00000180626	ENST00000399604	T	0.17691	2.26	2.33	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	N	0.02357	-0.585	0.09310	N	1	B	0.18166	0.026	B	0.15870	0.014	T	0.43097	-0.9412	9	0.10111	T	0.7	.	3.6597	0.08234	0.0:0.5786:0.2613:0.16	.	199	Q96JF6	ZN594_HUMAN	L	199	ENSP00000382513:V199L	ENSP00000382513:V199L	V	-	1	0	ZNF594	5027681	0.000000	0.05858	0.016000	0.15963	0.001000	0.01503	-0.256000	0.08757	0.330000	0.23485	-0.251000	0.11542	GTG		0.393	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737		38	87	0	0	0	0.00623	0	38	87		
ZNF594	84622	broad.mit.edu	37	17	5087090	5087090	+	Silent	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5087090T>G	ENST00000399604.4	-	1	602	c.462A>C	c.(460-462)ccA>ccC	p.P154P	ZNF594_ENST00000575779.1_Silent_p.P154P			Q96JF6	ZN594_HUMAN	zinc finger protein 594	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TACACACATATGGCTTATTTC	0.303																																						uc010cla.1		NaN																	0				ovary(2)|skin(1)	3						c.(460-462)CCA>CCC		zinc finger protein 594							82.0	82.0	82.0					17																	5087090		1970	4200	6170	SO:0001819	synonymous_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5087090T>G	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.462A>C	17.37:g.5087090T>G							p.P154P	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	618	-			154					Q6RFS0	Silent	SNP	ENST00000399604.4	37	c.462A>C	CCDS42241.1																																																																																				0.303	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737		22	55	0	0	0	0.016522	0	22	55		
DHX33	56919	broad.mit.edu	37	17	5371895	5371895	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5371895G>A	ENST00000225296.3	-	1	485	c.285C>T	c.(283-285)ctC>ctT	p.L95L	CTC-524C5.5_ENST00000571506.1_lincRNA|DHX33_ENST00000433302.3_Silent_p.L95L	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	95	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTCACCGATGAGGACCGCGT	0.612																																						uc002gca.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(283-285)CTC>CTT		DEAH (Asp-Glu-Ala-His) box polypeptide 33							11.0	12.0	12.0					17																	5371895		2161	4255	6416	SO:0001819	synonymous_variant	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5371895G>A	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.285C>T	17.37:g.5371895G>A						DHX33_uc002gcb.2_5'UTR|DHX33_uc010clf.2_Silent_p.L95L	p.L95L	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			1	287	-			95			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Silent	SNP	ENST00000225296.3	37	c.285C>T	CCDS11072.1																																																																																				0.612	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2		NM_020162		5	16	0	0	0	0.001168	0	5	16		
ACADVL	37	broad.mit.edu	37	17	7121570	7121570	+	5'Flank	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:7121570G>C	ENST00000356839.5	+	0	0				ACADVL_ENST00000350303.5_5'Flank|DLG4_ENST00000399506.2_5'Flank|DLG4_ENST00000485100.1_5'Flank|DLG4_ENST00000399510.2_Nonsense_Mutation_p.S50*|DLG4_ENST00000302955.6_5'Flank|ACADVL_ENST00000543245.2_Intron	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CTGACTCTCTGAGAGGGAAGC	0.552																																						uc002get.3		NaN																	0				ovary(1)|breast(1)	2						c.(148-150)TCA>TGA		post-synaptic density protein 95 isoform 1							39.0	41.0	41.0					17																	7121570		1934	4140	6074	SO:0001631	upstream_gene_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7121570G>C	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157		17.37:g.7121570G>C	Exception_encountered					DLG4_uc010cly.2_5'Flank|DLG4_uc010vto.1_Nonsense_Mutation_p.S50*|DLG4_uc002geu.2_5'Flank|ACADVL_uc010vtp.1_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.2_5'Flank|ACADVL_uc002gew.2_5'Flank|ACADVL_uc002gex.2_5'Flank	p.S50*	NM_001365	NP_001356	P78352	DLG4_HUMAN			3	1350	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DEB6|F5H2A9|O76056|Q8WUL0	Nonsense_Mutation	SNP	ENST00000356839.5	37	c.149C>G	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	G	44	10.993114	0.99499	.	.	ENSG00000132535	ENST00000399510;ENST00000293813;ENST00000539674	.	.	.	5.29	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	8.5658	0.33538	0.0941:0.167:0.7389:0.0	.	.	.	.	X	50	.	ENSP00000293813:S50X	S	-	2	0	DLG4	7062294	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	1.949000	0.40313	1.203000	0.43233	0.643000	0.83706	TCA		0.552	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5		NM_000018		9	13	0	0	0	0.016723	0	9	13		
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:7578500G>A	ENST00000269305.4	-	5	619	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCCACAGCTGCACAGGGCAG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		65	Substitution - Nonsense(40)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(2)	p.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(1)	lung(11)|upper_aerodigestive_tract(10)|oesophagus(8)|breast(8)|endometrium(6)|ovary(5)|bone(4)|large_intestine(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|liver(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(430-432)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	56.0	57.0					17																	7578500		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578500G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.430C>T	17.37:g.7578500G>A	ENSP00000269305:p.Gln144*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105*	p.Q144*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	624	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	144		Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.430C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071217	0.55646	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.121732	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.9139	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	144;144;144;144;144;144;133;51;12;51;12;144	.	ENSP00000269305:Q144X	Q	-	1	0	TP53	7519225	1.000000	0.71417	0.908000	0.35775	0.017000	0.09413	7.953000	0.87836	2.733000	0.93635	0.655000	0.94253	CAG		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		32	39	0	0	0	0.013726	0	32	39		
MYH3	4621	broad.mit.edu	37	17	10545784	10545784	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:10545784G>C	ENST00000583535.1	-	16	1925	c.1838C>G	c.(1837-1839)tCt>tGt	p.S613C	MYH3_ENST00000226209.7_Missense_Mutation_p.S613C	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	613	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTGTTGGAAGACTTCTGGTA	0.542																																						uc002gmq.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1837-1839)TCT>TGT		myosin, heavy chain 3, skeletal muscle,							136.0	130.0	132.0					17																	10545784		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10545784G>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1838C>G	17.37:g.10545784G>C	ENSP00000464317:p.Ser613Cys						p.S613C	NM_002470	NP_002461	P11055	MYH3_HUMAN			15	1915	-			613			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1838C>G	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665837	0.67700	.	.	ENSG00000109063	ENST00000226209	D	0.90732	-2.72	4.86	4.86	0.63082	Myosin head, motor domain (2);	.	.	.	.	D	0.93887	0.8044	M	0.91196	3.185	0.54753	D	0.99998	B	0.21225	0.053	B	0.33846	0.171	D	0.92846	0.6293	9	0.62326	D	0.03	.	18.5342	0.91004	0.0:0.0:1.0:0.0	.	613	P11055	MYH3_HUMAN	C	613	ENSP00000226209:S613C	ENSP00000226209:S613C	S	-	2	0	MYH3	10486509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.686000	0.91538	0.650000	0.86243	TCT		0.542	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470		48	22	0	0	0	0.01441	0	48	22		
TMEM132E	124842	broad.mit.edu	37	17	32964390	32964390	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:32964390C>T	ENST00000321639.5	+	10	2422	c.2094C>T	c.(2092-2094)acC>acT	p.T698T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	698						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGAGCTAACCATCGCTGAGA	0.642																																						uc002hif.2		NaN																	0				central_nervous_system(1)	1						c.(2092-2094)ACC>ACT		transmembrane protein 132E precursor							66.0	69.0	68.0					17																	32964390		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32964390C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2094C>T	17.37:g.32964390C>T							p.T698T	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2422	+			698			Extracellular (Potential).		Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.2094C>T	CCDS11283.1																																																																																				0.642	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2		NM_207313		7	47	0	0	0	0.00308	0	7	47		
DUSP14	11072	broad.mit.edu	37	17	35872428	35872428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:35872428G>A	ENST00000487847.1	+	2	1032	c.54G>A	c.(52-54)atG>atA	p.M18I	DUSP14_ENST00000394389.4_Missense_Mutation_p.M18I|DUSP14_ENST00000394386.1_Missense_Mutation_p.M18I			O95147	DUS14_HUMAN	dual specificity phosphatase 14	18					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CCCCTCGGATGATTTCCGAGG	0.577																																						uc002hnx.2		NaN																	0					0						c.(52-54)ATG>ATA		dual specificity phosphatase 14							56.0	50.0	52.0					17																	35872428		2203	4300	6503	SO:0001583	missense	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872428G>A	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.54G>A	17.37:g.35872428G>A	ENSP00000466299:p.Met18Ile					DUSP14_uc002hny.2_Missense_Mutation_p.M5I|DUSP14_uc002hnz.2_Missense_Mutation_p.M5I	p.M18I	NM_007026	NP_008957	O95147	DUS14_HUMAN			3	348	+		Breast(25;0.00637)|Ovarian(249;0.15)	18						Missense_Mutation	SNP	ENST00000487847.1	37	c.54G>A	CCDS11320.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769592	0.31320	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.59772	0.24;0.24	5.69	5.69	0.88448	.	0.114561	0.64402	D	0.000009	T	0.39172	0.1068	N	0.08118	0	0.34343	D	0.689044	B	0.09022	0.002	B	0.04013	0.001	T	0.41680	-0.9495	10	0.22706	T	0.39	.	17.5912	0.87997	0.0:0.0:1.0:0.0	.	18	O95147	DUS14_HUMAN	I	18	ENSP00000377912:M18I;ENSP00000377910:M18I	ENSP00000377910:M18I	M	+	3	0	DUSP14	32946541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.892000	0.63193	2.706000	0.92434	0.555000	0.69702	ATG		0.577	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3		NM_007026		51	31	0	0	0	0.01441	0	51	31		
ERBB2	2064	broad.mit.edu	37	17	37879903	37879903	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:37879903C>T	ENST00000269571.5	+	18	2357	c.2198C>T	c.(2197-2199)aCa>aTa	p.T733I	ERBB2_ENST00000540147.1_Missense_Mutation_p.T703I|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_Missense_Mutation_p.T733I|ERBB2_ENST00000541774.1_Missense_Mutation_p.T718I|ERBB2_ENST00000445658.2_Missense_Mutation_p.T457I|ERBB2_ENST00000584601.1_Missense_Mutation_p.T703I|ERBB2_ENST00000406381.2_Missense_Mutation_p.T703I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	733	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.T733I(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCTTTTGGCACAGTCTACAAG	0.637		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		1	Substitution - Missense(1)	p.T733I(1)	stomach(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(2197-2199)ACA>ATA		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						58.0	54.0	55.0					17																	37879903		2198	4300	6498	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37879903C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2198C>T	17.37:g.37879903C>T	ENSP00000269571:p.Thr733Ile	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.T703I|ERBB2_uc010cwa.2_Missense_Mutation_p.T718I|ERBB2_uc002hsp.2_Missense_Mutation_p.T536I|ERBB2_uc010cwb.2_Missense_Mutation_p.T733I|ERBB2_uc010wek.1_Missense_Mutation_p.T457I	p.T733I	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	18	2436	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	733			Cytoplasmic (Potential).|Protein kinase.|ATP (By similarity).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2198C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319917	0.95682	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.07	5.07	0.68467	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88437	0.6436	L	0.42632	1.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89717	0.3916	9	0.87932	D	0	.	18.0773	0.89431	0.0:1.0:0.0:0.0	.	457;718;733	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	703;718;457;733;703	ENSP00000385185:T703I;ENSP00000446466:T718I;ENSP00000404047:T457I;ENSP00000269571:T733I;ENSP00000443562:T703I	ENSP00000269571:T733I	T	+	2	0	ERBB2	35133429	1.000000	0.71417	0.987000	0.45799	0.947000	0.59692	7.818000	0.86416	2.364000	0.80123	0.561000	0.74099	ACA		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				103	7	0	0	0	0.01441	0	103	7		
IKZF3	22806	broad.mit.edu	37	17	37947792	37947792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:37947792G>A	ENST00000346872.3	-	5	530	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	IKZF3_ENST00000377958.2_Nonsense_Mutation_p.Q70*|IKZF3_ENST00000535189.1_Nonsense_Mutation_p.Q123*|IKZF3_ENST00000439167.2_Nonsense_Mutation_p.Q123*|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000346243.3_Nonsense_Mutation_p.Q157*|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000350532.3_Nonsense_Mutation_p.Q157*|IKZF3_ENST00000351680.3_Nonsense_Mutation_p.Q157*	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	157					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTACCTTTCTGAGTAAAAGAT	0.448																																						uc002hsu.2		NaN																	0				lung(2)|kidney(2)|skin(2)	6						c.(469-471)CAG>TAG		aiolos isoform 1							146.0	139.0	142.0					17																	37947792		2203	4300	6503	SO:0001587	stop_gained	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37947792G>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.469C>T	17.37:g.37947792G>A	ENSP00000344544:p.Gln157*					IKZF3_uc002htd.2_Nonsense_Mutation_p.Q123*|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Nonsense_Mutation_p.Q123*|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Nonsense_Mutation_p.Q70*|IKZF3_uc002htc.2_Intron	p.Q157*	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	531	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		157			C2H2-type 2.		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Nonsense_Mutation	SNP	ENST00000346872.3	37	c.469C>T	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075273	0.94000	.	.	ENSG00000161405	ENST00000488188;ENST00000377958;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532	.	.	.	5.94	5.94	0.96194	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.0981	20.3736	0.98901	0.0:0.0:1.0:0.0	.	.	.	.	X	157;70;123;157;157;157	.	ENSP00000341977:Q157X	Q	-	1	0	IKZF3	35201318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	CAG		0.448	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2		NM_012481		809	81	0	0	0	0.01441	0	809	81		
KRTAP4-11	653240	broad.mit.edu	37	17	39274205	39274205	+	Silent	SNP	T	T	C	rs80322614	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:39274205T>C	ENST00000391413.2	-	1	401	c.363A>G	c.(361-363)agA>agG	p.R121R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcactggggtctgcagcagc	0.647													t|||	1244	0.248403	0.3548	0.245	5008	,	,		17569	0.1786		0.1461	False		,,,				2504	0.2843					uc002hvz.2		NaN																	1	Substitution - coding silent(1)		prostate(1)		0						c.(361-363)AGA>AGG		keratin associated protein 4-11							5.0	9.0	8.0					17																	39274205		645	1536	2181	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274205T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.363A>G	17.37:g.39274205T>C							p.R121R	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	402	-		Breast(137;0.000496)	121			20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.363A>G	CCDS45675.1																																																																																				0.647	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1				3	11	0	0	0	0.004482	0	3	11		
STH	246744	broad.mit.edu	37	17	44076789	44076789	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:44076789C>T	ENST00000537309.1	+	1	174	c.144C>T	c.(142-144)ctC>ctT	p.L48L	MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	48						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ACAGAACCCTCAGCTTAGCAT	0.527																																						uc002ijy.2		NaN																	0					0						c.(142-144)CTC>CTT		saitohin							120.0	120.0	120.0					17																	44076789		1965	4148	6113	SO:0001819	synonymous_variant	246744					cytoplasm|nucleus		g.chr17:44076789C>T	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.144C>T	17.37:g.44076789C>T						MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.L48L	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN			1	174	+			48					A1L3X7	Silent	SNP	ENST00000537309.1	37	c.144C>T	CCDS54136.1																																																																																				0.527	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1				9	38	0	0	0	0.004482	0	9	38		
ITGA3	3675	broad.mit.edu	37	17	48153806	48153806	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48153806C>T	ENST00000320031.8	+	13	2121	c.1791C>T	c.(1789-1791)ctC>ctT	p.L597L	ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Silent_p.L597L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	597					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACCCGATCCTCAACCAGGCAC	0.647																																						uc010dbl.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1789-1791)CTC>CTT		integrin alpha 3 isoform a precursor							96.0	108.0	104.0					17																	48153806		2203	4299	6502	SO:0001819	synonymous_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48153806C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1791C>T	17.37:g.48153806C>T						ITGA3_uc010dbm.2_Silent_p.L597L	p.L597L	NM_002204	NP_002195	P26006	ITA3_HUMAN			13	2255	+			597			Extracellular (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.1791C>T	CCDS11558.1																																																																																				0.647	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1		NM_005501		32	160	0	0	0	0.010818	0	32	160		
SAMD14	201191	broad.mit.edu	37	17	48190393	48190393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48190393G>A	ENST00000330175.4	-	10	1435	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Missense_Mutation_p.S401F	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	373	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CCGGTCATGAGAGTTGCTGAG	0.657																																						uc002iqg.2		NaN																	0					0						c.(1117-1119)TCT>TTT		sterile alpha motif domain containing 14							44.0	41.0	42.0					17																	48190393		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48190393G>A		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.1118C>T	17.37:g.48190393G>A	ENSP00000329144:p.Ser373Phe					SAMD14_uc002iqd.2_Missense_Mutation_p.S156F|SAMD14_uc002iqe.2_Missense_Mutation_p.S156F|SAMD14_uc002iqf.2_Missense_Mutation_p.S401F	p.S373F	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN			10	1417	-			373			SAM.		A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.1118C>T	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677667	0.68042	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	D;D;D	0.84800	-1.9;-1.9;-1.9	5.11	5.11	0.69529	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.183435	0.35495	N	0.003169	D	0.88112	0.6349	L	0.37750	1.13	0.34904	D	0.746809	P;D	0.56521	0.928;0.976	P;D	0.65684	0.683;0.937	D	0.91888	0.5521	10	0.66056	D	0.02	-11.2409	15.4389	0.75168	0.0:0.0:1.0:0.0	.	373;401	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	F	373;385;401	ENSP00000329144:S373F;ENSP00000285206:S385F;ENSP00000424474:S401F	ENSP00000285206:S385F	S	-	2	0	SAMD14	45545392	0.999000	0.42202	0.989000	0.46669	0.898000	0.52572	5.464000	0.66719	2.382000	0.81193	0.462000	0.41574	TCT		0.657	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1		NM_174920		6	33	0	0	0	0.001984	0	6	33		
CHAD	1101	broad.mit.edu	37	17	48545626	48545626	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48545626C>T	ENST00000508540.1	-	1	701	c.549G>A	c.(547-549)ttG>ttA	p.L183L	ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Silent_p.L183L	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	183					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGGGAGCTCAACGCGTTTT	0.622																																						uc010dbr.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(547-549)TTG>TTA		chondroadherin precursor							72.0	80.0	77.0					17																	48545626		2203	4300	6503	SO:0001819	synonymous_variant	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545626C>T	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.549G>A	17.37:g.48545626C>T						ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Silent_p.L183L|ACSF2_uc010dbt.1_5'Flank	p.L183L	NM_001267	NP_001258	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	602	-	Breast(11;1.93e-18)		183			LRR 5.		A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	37	c.549G>A	CCDS11568.1																																																																																				0.622	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3		NM_001267		12	114	0	0	0	0.016723	0	12	114		
AXIN2	8313	broad.mit.edu	37	17	63533517	63533517	+	Missense_Mutation	SNP	C	C	T	rs145717795	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:63533517C>T	ENST00000375702.5	-	5	1745	c.1637G>A	c.(1636-1638)gGc>gAc	p.G546D	AXIN2_ENST00000307078.5_Missense_Mutation_p.G546D			Q9Y2T1	AXIN2_HUMAN	axin 2	546					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						ATACTCGCTGCCCCCAGGGCA	0.612									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1636-1638)GGC>GAC		axin 2							148.0	132.0	137.0					17																	63533517		2203	4300	6503	SO:0001583	missense	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63533517C>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1637G>A	17.37:g.63533517C>T	ENSP00000364854:p.Gly546Asp					AXIN2_uc002jfh.2_Missense_Mutation_p.G546D	p.G546D	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			6	1926	-			546					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.1637G>A		.	.	.	.	.	.	.	.	.	.	C	11.85	1.761496	0.31228	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.66099	-0.13;-0.19	5.22	5.22	0.72569	.	0.351880	0.30060	N	0.010506	T	0.58680	0.2139	L	0.58101	1.795	0.42695	D	0.993592	B;B	0.34103	0.437;0.437	B;B	0.32864	0.154;0.154	T	0.62946	-0.6746	10	0.52906	T	0.07	-6.6872	14.0355	0.64642	0.0:0.8485:0.1515:0.0	.	546;546	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	D	546	ENSP00000302625:G546D;ENSP00000364854:G546D	ENSP00000302625:G546D	G	-	2	0	AXIN2	60963979	0.023000	0.18921	0.713000	0.30519	0.010000	0.07245	2.406000	0.44557	2.436000	0.82500	0.655000	0.94253	GGC		0.612	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1		NM_004655		10	110	0	0	0	0.006214	0	10	110		
CBX4	8535	broad.mit.edu	37	17	77808682	77808682	+	Silent	SNP	G	G	C	rs567650384		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:77808682G>C	ENST00000269397.4	-	5	936	c.759C>G	c.(757-759)gtC>gtG	p.V253V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	253	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCTTGTTCTTGACTATCTTCA	0.577											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		15479	0.0		0.0	False		,,,				2504	0.001					uc002jxe.2		NaN																	0				skin(2)	2						c.(757-759)GTC>GTG		chromobox homolog 4							258.0	235.0	242.0					17																	77808682		2196	4285	6481	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808682G>C	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.759C>G	17.37:g.77808682G>C			OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.V253V	NM_003655	NP_003646	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	922	-			253			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.759C>G	CCDS32758.1																																																																																				0.577	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1		NM_003655		130	164	0	0	0	0.01441	0	130	164		
LPIN2	9663	broad.mit.edu	37	18	2954522	2954522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:2954522C>T	ENST00000261596.4	-	3	506	c.268G>A	c.(268-270)Gag>Aag	p.E90K	RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	90	N-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCAGTCTCCTCAACAAAGAAA	0.453																																						uc002klo.2		NaN																	0				ovary(1)|skin(1)	2						c.(268-270)GAG>AAG		lipin 2							135.0	126.0	129.0					18																	2954522		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2954522C>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.268G>A	18.37:g.2954522C>T	ENSP00000261596:p.Glu90Lys						p.E90K	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	3	507	-			90			N-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.268G>A	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734742	0.89482	.	.	ENSG00000101577	ENST00000261596;ENST00000455369;ENST00000455221	T	0.76316	-1.01	5.53	4.61	0.57282	Lipin, N-terminal (1);	0.051942	0.85682	D	0.000000	T	0.71273	0.3320	N	0.22421	0.69	0.41338	D	0.987288	B	0.34349	0.45	P	0.45712	0.491	T	0.65512	-0.6150	10	0.16420	T	0.52	-3.0804	13.3242	0.60450	0.0:0.6589:0.3411:0.0	.	90	Q92539	LPIN2_HUMAN	K	90;90;127	ENSP00000261596:E90K	ENSP00000261596:E90K	E	-	1	0	LPIN2	2944522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.919000	0.75793	2.596000	0.87737	0.655000	0.94253	GAG		0.453	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2		NM_014646		18	23	0	0	0	0.007413	0	18	23		
ABHD3	171586	broad.mit.edu	37	18	19231568	19231568	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:19231568C>A	ENST00000289119.2	-	9	1353	c.1214G>T	c.(1213-1215)gGa>gTa	p.G405V	ABHD3_ENST00000580981.1_Missense_Mutation_p.G352V|ABHD3_ENST00000578270.1_Missense_Mutation_p.G210V	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	405						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						GAGTTCATGTCCATGCTCAAC	0.423																																						uc002ktl.2		NaN																	0				central_nervous_system(1)	1						c.(1213-1215)GGA>GTA		alpha/beta hydrolase domain containing protein							163.0	139.0	147.0					18																	19231568		2203	4300	6503	SO:0001583	missense	171586					integral to membrane	carboxylesterase activity	g.chr18:19231568C>A	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.1214G>T	18.37:g.19231568C>A	ENSP00000289119:p.Gly405Val					ABHD3_uc002ktm.2_Missense_Mutation_p.G352V|ABHD3_uc002ktk.2_Missense_Mutation_p.G210V	p.G405V	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN			9	1354	-			405					B0YIV0|B7Z5C2|O43411	Missense_Mutation	SNP	ENST00000289119.2	37	c.1214G>T	CCDS32802.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555907	0.45487	.	.	ENSG00000158201	ENST00000289119	T	0.12039	2.72	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	M	0.66939	2.045	0.80722	D	1	D	0.54772	0.968	P	0.51170	0.661	T	0.00742	-1.1585	10	0.49607	T	0.09	-12.4312	19.5896	0.95503	0.0:1.0:0.0:0.0	.	405	Q8WU67	ABHD3_HUMAN	V	405	ENSP00000289119:G405V	ENSP00000289119:G405V	G	-	2	0	ABHD3	17485566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.601000	0.67606	2.632000	0.89209	0.585000	0.79938	GGA		0.423	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1				58	46	1	0	7.41606e-26	0.01441	8.65534e-26	58	46		
MIB1	57534	broad.mit.edu	37	18	19359586	19359586	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:19359586G>C	ENST00000261537.6	+	6	1112	c.848G>C	c.(847-849)gGa>gCa	p.G283A	AC091038.1_ENST00000582102.1_RNA|MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	283					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ACTACAACTGGAACTGTTTGT	0.388																																						uc002ktq.2		NaN																	0				ovary(4)	4						c.(847-849)GGA>GCA		mindbomb homolog 1							313.0	275.0	288.0					18																	19359586		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19359586G>C	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.848G>C	18.37:g.19359586G>C	ENSP00000261537:p.Gly283Ala					MIB1_uc002ktp.2_5'UTR	p.G283A	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		6	848	+			283					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.848G>C	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946196	0.73672	.	.	ENSG00000101752	ENST00000261537	T	0.63417	-0.04	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.81418	0.4818	M	0.87971	2.92	0.80722	D	1	D	0.58970	0.984	D	0.67548	0.952	D	0.84939	0.0864	10	0.59425	D	0.04	-12.8777	17.8823	0.88844	0.0:0.0:1.0:0.0	.	283	Q86YT6	MIB1_HUMAN	A	283	ENSP00000261537:G283A	ENSP00000261537:G283A	G	+	2	0	MIB1	17613584	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.804000	0.99143	2.305000	0.77605	0.289000	0.19496	GGA		0.388	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1		NM_020774		75	88	0	0	0	0.01441	0	75	88		
CCDC178	374864	broad.mit.edu	37	18	30903591	30903591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:30903591C>T	ENST00000383096.3	-	11	1068	c.886G>A	c.(886-888)Gac>Aac	p.D296N	CCDC178_ENST00000579947.1_Missense_Mutation_p.D296N|CCDC178_ENST00000402325.1_Missense_Mutation_p.D296N|CCDC178_ENST00000583930.1_Missense_Mutation_p.D296N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.D296N|CCDC178_ENST00000403303.1_Missense_Mutation_p.D296N|CCDC178_ENST00000406524.2_Missense_Mutation_p.D296N			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	296																	CTGTGTAGGTCCATTACCTAG	0.294																																						uc002kxn.2		NaN																	0				ovary(1)	1						c.(886-888)GAC>AAC		hypothetical protein LOC374864 isoform 1							44.0	42.0	42.0					18																	30903591		2199	4295	6494	SO:0001583	missense	374864							g.chr18:30903591C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.886G>A	18.37:g.30903591C>T	ENSP00000372576:p.Asp296Asn					C18orf34_uc010xbr.1_Missense_Mutation_p.D296N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.D296N|C18orf34_uc002kxp.2_Missense_Mutation_p.D296N	p.D296N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			10	1028	-			296			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.886G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953772	0.18431	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.52	3.63	0.41609	.	.	.	.	.	T	0.24661	0.0598	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.32160	0.358;0.358;0.358;0.358	B;B;B;B	0.29716	0.106;0.106;0.106;0.106	T	0.15350	-1.0440	9	0.59425	D	0.04	-0.0013	10.4719	0.44642	0.1951:0.8049:0.0:0.0	.	296;296;296;296	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	N	296	ENSP00000385591:D296N;ENSP00000372576:D296N;ENSP00000300227:D296N;ENSP00000385867:D296N;ENSP00000385234:D296N	ENSP00000300227:D296N	D	-	1	0	C18orf34	29157589	0.065000	0.20965	0.106000	0.21319	0.001000	0.01503	1.571000	0.36450	1.197000	0.43143	-0.188000	0.12872	GAC		0.294	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2		NM_198995		4	2	0	0	0	0.009096	0	4	2		
MALT1	10892	broad.mit.edu	37	18	56348424	56348424	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:56348424T>C	ENST00000348428.3	+	2	490	c.232T>C	c.(232-234)Tct>Cct	p.S78P	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S78P	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	78	Death.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GGAGCAGTGTTCTCTTAAGGT	0.463			T	BIRC3	MALT																																	uc002lhm.1		NaN		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(232-234)TCT>CCT		mucosa associated lymphoid tissue lymphoma							120.0	120.0	120.0					18																	56348424		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56348424T>C		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.232T>C	18.37:g.56348424T>C	ENSP00000319279:p.Ser78Pro					MALT1_uc002lhn.1_Missense_Mutation_p.S78P	p.S78P	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			2	490	+			78			Death.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.232T>C	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693925	0.88735	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.60797	0.16;0.16	5.88	5.88	0.94601	DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	M	0.68593	2.085	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77487	-0.2569	10	0.87932	D	0	.	15.9562	0.79889	0.0:0.0:0.0:1.0	.	78;78	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	P	78	ENSP00000319279:S78P;ENSP00000304161:S78P	ENSP00000304161:S78P	S	+	1	0	MALT1	54499404	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.738000	0.74822	2.253000	0.74438	0.455000	0.32223	TCT		0.463	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2				36	21	0	0	0	0.010771	0	36	21		
ATP8B3	148229	broad.mit.edu	37	19	1796870	1796870	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:1796870G>C	ENST00000310127.6	-	16	1831	c.1593C>G	c.(1591-1593)ccC>ccG	p.P531P	ATP8B3_ENST00000525591.1_Silent_p.P484P|ATP8B3_ENST00000539485.1_Silent_p.P531P	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	531					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGAGGTAGGGGTTCTCCT	0.716																																						uc002ltw.2		NaN																	0					0						c.(1591-1593)CCC>CCG		ATPase, class I, type 8B, member 3							26.0	31.0	29.0					19																	1796870		1958	4115	6073	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1796870G>C	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1593C>G	19.37:g.1796870G>C						ATP8B3_uc002ltv.2_Silent_p.P484P|ATP8B3_uc002ltx.2_RNA	p.P531P	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	1827	-		Hepatocellular(1079;0.137)	531			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.1593C>G	CCDS45901.1																																																																																				0.716	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1		NM_138813		3	22	0	0	0	0.004672	0	3	22		
STAP2	55620	broad.mit.edu	37	19	4338736	4338736	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:4338736C>T	ENST00000594605.1	-	1	138	c.15G>A	c.(13-15)ctG>ctA	p.L5L	STAP2_ENST00000600324.1_Silent_p.L5L|AC007292.7_ENST00000598582.1_RNA	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	5						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTGGCCTCAGGGCAGAGG	0.627																																						uc002mab.2		NaN																	0				central_nervous_system(1)	1						c.(13-15)CTG>CTA		signal transducing adaptor family member 2							36.0	35.0	35.0					19																	4338736		2203	4300	6503	SO:0001819	synonymous_variant	55620					cytoplasm|nucleus	protein binding	g.chr19:4338736C>T	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.15G>A	19.37:g.4338736C>T						STAP2_uc002mac.2_Silent_p.L5L|STAP2_uc002mad.2_5'UTR	p.L5L	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	1	112	-		Hepatocellular(1079;0.137)	5					A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	c.15G>A	CCDS45926.1																																																																																				0.627	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2		NM_001013841		9	26	0	0	0	0.010729	0	9	26		
VAV1	7409	broad.mit.edu	37	19	6836572	6836572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:6836572G>A	ENST00000602142.1	+	20	1989	c.1907G>A	c.(1906-1908)tGg>tAg	p.W636*	VAV1_ENST00000599806.1_Nonsense_Mutation_p.W581*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.W604*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.W636*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.W539*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	636	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAACAGAACTGGTGGGAGGTA	0.567																																						uc002mfu.1		NaN																	0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(1906-1908)TGG>TAG		vav 1 guanine nucleotide exchange factor							55.0	47.0	50.0					19																	6836572		2203	4300	6503	SO:0001587	stop_gained	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6836572G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1907G>A	19.37:g.6836572G>A	ENSP00000472929:p.Trp636*					VAV1_uc010xjh.1_Nonsense_Mutation_p.W604*|VAV1_uc010dva.1_Nonsense_Mutation_p.W636*|VAV1_uc002mfv.1_Nonsense_Mutation_p.W581*	p.W636*	NM_005428	NP_005419	P15498	VAV_HUMAN			20	2004	+			636			SH3 1.		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	37	c.1907G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	38	7.053264	0.98029	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5097	0.67776	0.0:0.0:1.0:0.0	.	.	.	.	X	636;539	.	ENSP00000302269:W636X	W	+	2	0	VAV1	6787572	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.429000	0.90280	2.022000	0.59522	0.478000	0.44815	TGG		0.567	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1				7	24	0	0	0	0.00308	0	7	24		
ANGPTL4	51129	broad.mit.edu	37	19	8431173	8431173	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:8431173G>A	ENST00000301455.2	+	3	688	c.517G>A	c.(517-519)Gac>Aac	p.D173N	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.D173N|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.D6N	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	173					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CCAGCCAGTTGACCCGGCTCA	0.637																																						uc002mjq.1		NaN																	0				ovary(1)	1						c.(517-519)GAC>AAC		angiopoietin-like 4 protein isoform a precursor							71.0	76.0	74.0					19																	8431173		2203	4300	6503	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8431173G>A	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.517G>A	19.37:g.8431173G>A	ENSP00000301455:p.Asp173Asn					ANGPTL4_uc002mjr.1_Missense_Mutation_p.D173N|ANGPTL4_uc010xkc.1_Missense_Mutation_p.D6N	p.D173N	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN			3	712	+			173					A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.517G>A	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	G	2.470	-0.322141	0.05350	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.56103	0.66;0.48;0.6	4.19	3.06	0.35304	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	11.171400	0.00166	N	0.000001	T	0.35480	0.0933	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.15484	0.013;0.003	T	0.31943	-0.9925	10	0.06625	T	0.88	.	9.3552	0.38161	0.0:0.2188:0.7812:0.0	.	173;173	A8MY84;Q9BY76	.;ANGL4_HUMAN	N	173;173;6	ENSP00000301455:D173N;ENSP00000377534:D173N;ENSP00000439833:D6N	ENSP00000301455:D173N	D	+	1	0	ANGPTL4	8337173	0.023000	0.18921	0.004000	0.12327	0.018000	0.09664	2.537000	0.45702	2.326000	0.78906	0.655000	0.94253	GAC		0.637	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1		NM_139314		18	32	0	0	0	0.008871	0	18	32		
ANGPTL4	51129	broad.mit.edu	37	19	8431175	8431175	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:8431175C>A	ENST00000301455.2	+	3	690	c.519C>A	c.(517-519)gaC>gaA	p.D173E	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.D173E|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.D6E	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	173					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						AGCCAGTTGACCCGGCTCACA	0.632																																						uc002mjq.1		NaN																	0				ovary(1)	1						c.(517-519)GAC>GAA		angiopoietin-like 4 protein isoform a precursor							70.0	75.0	73.0					19																	8431175		2203	4300	6503	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8431175C>A	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.519C>A	19.37:g.8431175C>A	ENSP00000301455:p.Asp173Glu					ANGPTL4_uc002mjr.1_Missense_Mutation_p.D173E|ANGPTL4_uc010xkc.1_Missense_Mutation_p.D6E	p.D173E	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN			3	714	+			173					A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.519C>A	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	C	0.314	-0.965973	0.02249	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.54866	0.75;0.55;0.68	4.19	3.15	0.36227	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	11.171400	0.00166	N	0.000001	T	0.34308	0.0893	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.01;0.003	B;B	0.12837	0.008;0.003	T	0.35251	-0.9796	10	0.02654	T	1	.	7.8032	0.29187	0.0:0.8861:0.0:0.1139	.	173;173	A8MY84;Q9BY76	.;ANGL4_HUMAN	E	173;173;6	ENSP00000301455:D173E;ENSP00000377534:D173E;ENSP00000439833:D6E	ENSP00000301455:D173E	D	+	3	2	ANGPTL4	8337175	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.326000	0.19646	1.108000	0.41662	0.655000	0.94253	GAC		0.632	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1		NM_139314		18	32	1	0	1.33834e-09	0.007413	1.5138e-09	18	32		
MUC16	94025	broad.mit.edu	37	19	9076683	9076683	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:9076683G>T	ENST00000397910.4	-	3	10966	c.10763C>A	c.(10762-10764)gCa>gAa	p.A3588E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3589	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAATCTGATGCAGCTGTGGA	0.493																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(10762-10764)GCA>GAA		mucin 16							150.0	149.0	149.0					19																	9076683		2078	4207	6285	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076683G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10763C>A	19.37:g.9076683G>T	ENSP00000381008:p.Ala3588Glu						p.A3588E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	10967	-			3589			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10763C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.094	0.015535	0.07959	.	.	ENSG00000181143	ENST00000397910	T	0.02787	4.16	1.42	0.349	0.16032	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	D	0.59357	0.985	B	0.42030	0.373	T	0.47636	-0.9102	8	0.87932	D	0	.	3.7118	0.08423	0.2512:0.0:0.7488:0.0	.	3588	B5ME49	.	E	3588	ENSP00000381008:A3588E	ENSP00000381008:A3588E	A	-	2	0	MUC16	8937683	0.000000	0.05858	0.002000	0.10522	0.212000	0.24457	-0.076000	0.11412	0.156000	0.19299	0.313000	0.20887	GCA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		6	76	1	0	0.00116845	0.001168	0.00126318	6	76		
MYO9B	4650	broad.mit.edu	37	19	17321180	17321180	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:17321180G>A	ENST00000594824.1	+	37	5934	c.5787G>A	c.(5785-5787)gaG>gaA	p.E1929E	CTD-3032J10.3_ENST00000601929.1_RNA|MYO9B_ENST00000595618.1_Silent_p.E1929E|MYO9B_ENST00000397274.2_Silent_p.E1929E			Q13459	MYO9B_HUMAN	myosin IXB	1929	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTCCCTATGAGGGGGTCCTGG	0.627																																						uc010eak.2		NaN																	0				breast(1)	1						c.(5785-5787)GAG>GAA		myosin IXB isoform 1							79.0	78.0	78.0					19																	17321180		2030	4189	6219	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17321180G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5787G>A	19.37:g.17321180G>A						MYO9B_uc002nfi.2_Silent_p.E1929E|MYO9B_uc002nfj.1_Intron|MYO9B_uc002nfm.1_Silent_p.E89E	p.E1929E	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			37	5939	+			1929			Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.5787G>A																																																																																					0.627	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1				8	6	0	0	0	0.00308	0	8	6		
KCNN1	3780	broad.mit.edu	37	19	18092569	18092569	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:18092569G>A	ENST00000222249.9	+	5	869	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	184					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CATGACCTGCGAGCGCGTGTT	0.662																																						uc002nht.2		NaN																	0					0						c.(550-552)GAG>AAG		potassium intermediate/small conductance							31.0	32.0	31.0					19																	18092569		2153	4241	6394	SO:0001583	missense	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18092569G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.550G>A	19.37:g.18092569G>A	ENSP00000476519:p.Glu184Lys					KCNN1_uc010xqa.1_Missense_Mutation_p.E184K	p.E184K	NM_002248	NP_002239	Q92952	KCNN1_HUMAN			5	860	+			184			Helical; Name=Segment S3; (Potential).		Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37	c.550G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.391712	0.83011	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.04	5.04	0.67666	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.85682	D	0.000000	T	0.64560	0.2609	M	0.66939	2.045	0.54753	D	0.999987	B	0.28820	0.224	B	0.33690	0.168	T	0.66480	-0.5913	9	0.54805	T	0.06	-26.4907	15.8678	0.79076	0.0:0.0:1.0:0.0	.	184	Q92952	KCNN1_HUMAN	K	201;184	.	ENSP00000222249:E201K	E	+	1	0	KCNN1	17953569	1.000000	0.71417	0.983000	0.44433	0.694000	0.40290	6.321000	0.72881	2.342000	0.79632	0.561000	0.74099	GAG		0.662	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2		NM_002248		16	20	0	0	0	0.004007	0	16	20		
KIAA1683	80726	broad.mit.edu	37	19	18377736	18377736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:18377736G>A	ENST00000600328.3	-	3	807	c.614C>T	c.(613-615)cCc>cTc	p.P205L	KIAA1683_ENST00000600359.3_Missense_Mutation_p.P159L|KIAA1683_ENST00000392413.4_Missense_Mutation_p.P205L			Q9H0B3	K1683_HUMAN	KIAA1683	205						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGACGACTGGGGTCTGCAGAG	0.642																																						uc002nin.2		NaN																	0				ovary(2)	2						c.(613-615)CCC>CTC		KIAA1683 isoform b							28.0	30.0	29.0					19																	18377736		2197	4293	6490	SO:0001583	missense	80726					mitochondrion		g.chr19:18377736G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.614C>T	19.37:g.18377736G>A	ENSP00000470780:p.Pro205Leu					KIAA1683_uc010ebn.2_Missense_Mutation_p.P205L|KIAA1683_uc010xqe.1_Missense_Mutation_p.P159L	p.P205L	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	830	-			205					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.614C>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774493	0.31411	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422;ENST00000411671	T;T;T	0.03301	4.05;4.06;3.98	2.17	-0.286	0.12862	.	.	.	.	.	T	0.02047	0.0064	N	0.19112	0.55	0.09310	N	1	P;B	0.38922	0.651;0.053	B;B	0.32393	0.145;0.019	T	0.43702	-0.9375	9	0.59425	D	0.04	.	2.5984	0.04860	0.2087:0.0:0.4399:0.3514	.	205;205	E9PDE0;Q9H0B3	.;K1683_HUMAN	L	205;205;159;204;205	ENSP00000376213:P205L;ENSP00000352774:P205L;ENSP00000404501:P159L	ENSP00000351198:P204L	P	-	2	0	KIAA1683	18238736	0.000000	0.05858	0.009000	0.14445	0.188000	0.23474	-0.025000	0.12413	-0.244000	0.09639	0.313000	0.20887	CCC		0.642	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3				9	29	0	0	0	0.004482	0	9	29		
ZNF99	7652	broad.mit.edu	37	19	22941314	22941314	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:22941314G>A	ENST00000596209.1	-	4	1487	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ZNF99_ENST00000397104.3_Missense_Mutation_p.S375L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTAAGGGCTGAAAAATTGCT	0.358																																						uc010xrh.1		NaN																	0				ovary(1)|skin(1)	2						c.(1123-1125)TCA>TTA		zinc finger protein 99							75.0	77.0	76.0					19																	22941314		2026	4214	6240	SO:0001583	missense	7652							g.chr19:22941314G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1397C>T	19.37:g.22941314G>A	ENSP00000472969:p.Ser466Leu						p.S375L	NM_001080409	NP_001073878					5	1124	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1124C>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	11.02	1.514878	0.27123	.	.	ENSG00000213973	ENST00000397104	T	0.07444	3.19	1.28	-0.206	0.13193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	M	0.64630	1.985	0.09310	N	1	P	0.51653	0.947	D	0.67231	0.95	T	0.07501	-1.0769	9	0.59425	D	0.04	.	7.8709	0.29565	0.0:0.4959:0.5041:0.0	.	375	A8MXY4	ZNF99_HUMAN	L	375	ENSP00000380293:S375L	ENSP00000380293:S375L	S	-	2	0	ZNF99	22733154	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.066000	0.11598	-0.180000	0.10637	0.395000	0.25975	TCA		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124		8	27	0	0	0	0.00308	0	8	27		
GPI	2821	broad.mit.edu	37	19	34884959	34884959	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:34884959G>T	ENST00000356487.5	+	12	1291	c.1050G>T	c.(1048-1050)gcG>gcT	p.A350A	GPI_ENST00000415930.3_Silent_p.A361A|GPI_ENST00000586425.1_Silent_p.A350A	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	350					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GCTTTGCTGCGTACTTCCAGC	0.582																																						uc002nvg.1		NaN																	0				ovary(1)|kidney(1)	2						c.(1048-1050)GCG>GCT		glucose phosphate isomerase							59.0	53.0	55.0					19																	34884959		2203	4300	6503	SO:0001819	synonymous_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884959G>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1050G>T	19.37:g.34884959G>T						GPI_uc002nvf.2_Silent_p.A389A|GPI_uc010xrv.1_Silent_p.A361A|GPI_uc010xrw.1_Silent_p.A322A|GPI_uc010edl.1_Silent_p.A350A|GPI_uc002nvi.1_Silent_p.A13A	p.A350A	NM_000175	NP_000166	P06744	G6PI_HUMAN			12	1153	+	Esophageal squamous(110;0.162)		350					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.1050G>T	CCDS12437.1																																																																																				0.582	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3				13	30	1	0	0.00185496	0.016723	0.00200044	13	30		
GRAMD1A	57655	broad.mit.edu	37	19	35505212	35505212	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:35505212C>T	ENST00000317991.5	+	10	1182	c.990C>T	c.(988-990)acC>acT	p.T330T	GRAMD1A_ENST00000411896.2_Silent_p.T323T|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Silent_p.T417T|GRAMD1A_ENST00000504615.2_Silent_p.T96T	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	330						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCCCACCACCCTGGGCCCCT	0.637																																						uc010xse.1		NaN																	0					0						c.(988-990)ACC>ACT		GRAM domain containing 1A isoform 1							58.0	69.0	65.0					19																	35505212		1993	4176	6169	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35505212C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.990C>T	19.37:g.35505212C>T						GRAMD1A_uc002nxi.1_Silent_p.T417T|GRAMD1A_uc002nxk.2_Silent_p.T323T|GRAMD1A_uc002nxl.2_Silent_p.T96T|GRAMD1A_uc010xsf.1_Silent_p.T335T|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank	p.T330T	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		10	1127	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		330					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.990C>T	CCDS42546.1																																																																																				0.637	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1		NM_020895		32	63	0	0	0	0.006999	0	32	63		
UPK1A	11045	broad.mit.edu	37	19	36157752	36157752	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:36157752C>T	ENST00000222275.2	+	1	38	c.38C>T	c.(37-39)tCt>tTt	p.S13F	RN7SL765P_ENST00000580260.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.S13F|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	13					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGAAGGGATCTCCAGTTGTG	0.622																																						uc002oaw.2		NaN																	0					0						c.(37-39)TCT>TTT		uroplakin 1A							172.0	157.0	162.0					19																	36157752		2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36157752C>T	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.38C>T	19.37:g.36157752C>T	ENSP00000222275:p.Ser13Phe					UPK1A_uc010eeh.2_Missense_Mutation_p.S13F	p.S13F	NM_007000	NP_008931	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	38	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		13			Cytoplasmic (Potential).		Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.38C>T	CCDS12470.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408517	0.42715	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.07114	3.39;3.22	5.09	5.09	0.68999	.	0.091855	0.45361	D	0.000363	T	0.17831	0.0428	L	0.29908	0.895	0.38927	D	0.957866	D;D	0.64830	0.994;0.99	D;D	0.77004	0.989;0.974	T	0.01178	-1.1427	10	0.51188	T	0.08	.	13.8664	0.63592	0.0:1.0:0.0:0.0	.	13;13	O00322-2;O00322	.;UPK1A_HUMAN	F	13	ENSP00000222275:S13F;ENSP00000368298:S13F	ENSP00000222275:S13F	S	+	2	0	UPK1A	40849592	0.988000	0.35896	0.994000	0.49952	0.532000	0.34746	1.594000	0.36697	2.646000	0.89796	0.655000	0.94253	TCT		0.622	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3				24	52	0	0	0	0.016522	0	24	52		
ZFP14	57677	broad.mit.edu	37	19	36832186	36832186	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:36832186A>C	ENST00000270001.7	-	5	657	c.542T>G	c.(541-543)tTt>tGt	p.F181C		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GCGACGAATAAAGGTCTTCCT	0.403																																						uc002odx.1		NaN																	0				ovary(1)	1						c.(541-543)TTT>TGT		zinc finger protein 14-like							162.0	154.0	157.0					19																	36832186		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36832186A>C	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.542T>G	19.37:g.36832186A>C	ENSP00000270001:p.Phe181Cys					ZFP14_uc010xtd.1_Missense_Mutation_p.F182C|ZFP14_uc010eex.1_Missense_Mutation_p.F181C	p.F181C	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	635	-	Esophageal squamous(110;0.162)		181			C2H2-type 1.		A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.542T>G	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	a	16.43	3.119814	0.56613	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.45668	0.89	3.85	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000276	T	0.64929	0.2643	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70096	-0.4966	10	0.62326	D	0.03	.	12.0248	0.53365	1.0:0.0:0.0:0.0	.	181;181	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	C	181	ENSP00000270001:F181C	ENSP00000270001:F181C	F	-	2	0	ZFP14	41524026	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.695000	0.74593	1.737000	0.51674	0.448000	0.29417	TTT		0.403	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1		NM_020917		24	52	0	0	0	0.01892	0	24	52		
ZNF571	51276	broad.mit.edu	37	19	38055989	38055989	+	Silent	SNP	A	A	G	rs556404480		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:38055989A>G	ENST00000328550.2	-	4	1440	c.1341T>C	c.(1339-1341)ttT>ttC	p.F447F	ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000358744.3_Silent_p.F447F|ZNF571_ENST00000451802.2_Silent_p.F447F|ZNF571_ENST00000593133.1_Silent_p.F447F|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTACATTCAAAGGGTTTCT	0.388													A|||	1	0.000199681	0.0	0.0	5008	,	,		20609	0.0		0.0	False		,,,				2504	0.001					uc002ogt.2		NaN																	0					0						c.(1339-1341)TTT>TTC		zinc finger protein 571							65.0	66.0	66.0					19																	38055989		2203	4300	6503	SO:0001819	synonymous_variant	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38055989A>G	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1341T>C	19.37:g.38055989A>G						uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Silent_p.F447F	p.F447F	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1442	-			447			C2H2-type 12.		Q2HIY0|Q3ZCU3|Q9NZX7	Silent	SNP	ENST00000328550.2	37	c.1341T>C	CCDS12505.1																																																																																				0.388	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1		NM_016536		6	203	0	0	0	0.001984	0	6	203		
YIF1B	90522	broad.mit.edu	37	19	38800271	38800271	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:38800271C>A	ENST00000339413.6	-	2	116	c.71G>T	c.(70-72)aGg>aTg	p.R24M	YIF1B_ENST00000592246.1_De_novo_Start_InFrame|YIF1B_ENST00000591755.1_Missense_Mutation_p.R21M|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000592694.1_De_novo_Start_InFrame|YIF1B_ENST00000337679.8_Missense_Mutation_p.R21M|YIF1B_ENST00000591784.1_De_novo_Start_InFrame|YIF1B_ENST00000329420.8_Missense_Mutation_p.R9M|YIF1B_ENST00000392124.3_De_novo_Start_InFrame	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	24						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CACAGGGATCCTCCGCTTCGA	0.632																																						uc002ohz.2		NaN																	0					0						c.(70-72)AGG>ATG		Yip1 interacting factor homolog B isoform 5							24.0	26.0	25.0					19																	38800271		2196	4293	6489	SO:0001583	missense	90522					integral to membrane		g.chr19:38800271C>A	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.71G>T	19.37:g.38800271C>A	ENSP00000343435:p.Arg24Met					YIF1B_uc002ohw.2_Translation_Start_Site|YIF1B_uc002ohx.2_Missense_Mutation_p.R9M|YIF1B_uc010xtx.1_Missense_Mutation_p.R7M|YIF1B_uc010xty.1_Translation_Start_Site|YIF1B_uc002oia.2_Missense_Mutation_p.R21M|YIF1B_uc002ohy.2_Missense_Mutation_p.R21M|YIF1B_uc002oib.2_Missense_Mutation_p.R21M	p.R24M	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	120	-	all_cancers(60;1.07e-06)		24			Cytoplasmic (Potential).		H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	ENST00000339413.6	37	c.71G>T	CCDS33010.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442883	0.63067	.	.	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000337679	T;T;T	0.57107	0.79;0.83;0.42	4.36	4.36	0.52297	.	0.062749	0.56097	D	0.000023	T	0.65176	0.2666	L	0.47190	1.495	0.40476	D	0.980394	P;P;B;B;D	0.76494	0.708;0.454;0.264;0.4;0.999	B;B;B;B;D	0.81914	0.156;0.082;0.044;0.173;0.995	T	0.68488	-0.5395	10	0.59425	D	0.04	-5.8396	14.4902	0.67645	0.0:1.0:0.0:0.0	.	21;21;24;21;21	Q5BJH7-5;Q5BJH7-4;Q5BJH7;Q5BJH7-3;B7Z961	.;.;YIF1B_HUMAN;.;.	M	24;9;21	ENSP00000343435:R24M;ENSP00000329559:R9M;ENSP00000337411:R21M	ENSP00000329559:R9M	R	-	2	0	YIF1B	43492111	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.109000	0.57824	2.295000	0.77249	0.435000	0.28638	AGG		0.632	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1		NM_033557		5	82	1	0	0.000157383	0.00308	0.000171833	5	82		
ITPKC	80271	broad.mit.edu	37	19	41223370	41223370	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:41223370G>A	ENST00000263370.2	+	1	363	c.330G>A	c.(328-330)aaG>aaA	p.K110K	ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	110					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGGCCCAAGCAAAAGACGG	0.622																																						uc002oot.2		NaN																	0					0						c.(328-330)AAG>AAA		inositol 1,4,5-trisphosphate 3-kinase C							44.0	51.0	49.0					19																	41223370		2203	4300	6503	SO:0001819	synonymous_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41223370G>A	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.330G>A	19.37:g.41223370G>A						ADCK4_uc002ooq.1_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	p.K110K	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	363	+			110					Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	c.330G>A	CCDS12563.1																																																																																				0.622	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1		NM_025194		18	43	0	0	0	0.00499	0	18	43		
ARHGEF1	9138	broad.mit.edu	37	19	42410644	42410644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:42410644G>A	ENST00000354532.3	+	27	2675	c.2527G>A	c.(2527-2529)Gaa>Aaa	p.E843K	ARHGEF1_ENST00000378152.4_Intron|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E899K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E810K|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E858K	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	843					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCCGGCGGAGGAAGACAATGG	0.677																																						uc002orx.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(2527-2529)GAA>AAA		Rho guanine nucleotide exchange factor 1 isoform							28.0	33.0	31.0					19																	42410644		2199	4296	6495	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42410644G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2527G>A	19.37:g.42410644G>A	ENSP00000346532:p.Glu843Lys					ARHGEF1_uc002ory.2_Missense_Mutation_p.E810K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E681K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E858K|ARHGEF1_uc002osb.2_Intron|ARHGEF1_uc002osc.2_Intron|ARHGEF1_uc002osd.2_Missense_Mutation_p.E502K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E287K	p.E843K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	27	2636	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	843					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.2527G>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872385	0.72180	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665	T;T;T	0.72282	-0.63;-0.55;-0.64	3.69	3.69	0.42338	.	.	.	.	.	T	0.64193	0.2576	L	0.27053	0.805	0.36358	D	0.860516	P;P;P	0.45902	0.868;0.868;0.792	P;P;B	0.46585	0.521;0.521;0.321	T	0.74478	-0.3652	9	0.66056	D	0.02	.	13.7583	0.62950	0.0:0.0:1.0:0.0	.	858;810;843	Q92888-3;Q92888-2;Q92888	.;.;ARHG1_HUMAN	K	843;810;858	ENSP00000346532:E843K;ENSP00000344429:E810K;ENSP00000337261:E858K	ENSP00000337261:E858K	E	+	1	0	ARHGEF1	47102484	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	3.897000	0.56273	1.997000	0.58415	0.485000	0.47835	GAA		0.677	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1		NM_199002		22	38	0	0	0	0.01892	0	22	38		
PHLDB3	653583	broad.mit.edu	37	19	44008260	44008260	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:44008260C>T	ENST00000292140.5	-	2	371	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	PHLDB3_ENST00000599242.1_Missense_Mutation_p.R4Q	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	4							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GGGGCTGCTTCGCGTCCCCAT	0.756																																						uc002own.3		NaN																	0					0						c.(10-12)CGA>CAA		pleckstrin homology-like domain, family B,							6.0	7.0	7.0					19																	44008260		2160	4231	6391	SO:0001583	missense	653583							g.chr19:44008260C>T		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.11G>A	19.37:g.44008260C>T	ENSP00000292140:p.Arg4Gln					PHLDB3_uc002owo.2_Missense_Mutation_p.R4Q	p.R4Q	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN			2	270	-		Prostate(69;0.0153)	4					Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.11G>A	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378132	0.42105	.	.	ENSG00000176531	ENST00000292140	T	0.44083	0.93	4.88	-1.5	0.08691	.	2.205040	0.02204	N	0.062534	T	0.30166	0.0756	N	0.19112	0.55	0.09310	N	1	B;B	0.18310	0.027;0.016	B;B	0.12156	0.007;0.005	T	0.21518	-1.0243	10	0.24483	T	0.36	.	11.4923	0.50387	0.0:0.5774:0.2971:0.1255	.	4;4	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	Q	4	ENSP00000292140:R4Q	ENSP00000292140:R4Q	R	-	2	0	PHLDB3	48700100	0.007000	0.16637	0.002000	0.10522	0.065000	0.16274	0.388000	0.20735	-0.276000	0.09206	0.298000	0.19748	CGA		0.756	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2				14	6	0	0	0	0.020292	0	14	6		
ZNF45	7596	broad.mit.edu	37	19	44418655	44418655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:44418655C>G	ENST00000269973.5	-	10	2023	c.933G>C	c.(931-933)aaG>aaC	p.K311N	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.K311N	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	311					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						AACTGAAGCTCTTCCCACACT	0.468																																						uc002oxu.1		NaN																	0				ovary(1)	1						c.(931-933)AAG>AAC		zinc finger protein 45							90.0	73.0	79.0					19																	44418655		2203	4300	6503	SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418655C>G	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.933G>C	19.37:g.44418655C>G	ENSP00000269973:p.Lys311Asn					ZNF45_uc002oxw.1_Missense_Mutation_p.K311N|ZNF45_uc002oxv.1_Missense_Mutation_p.K311N	p.K311N	NM_003425	NP_003416	Q02386	ZNF45_HUMAN			4	1032	-			311			C2H2-type 6.		P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	c.933G>C	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821001	0.50633	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.07908	3.15	3.39	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38272	N	0.001758	T	0.23886	0.0578	M	0.78456	2.415	0.27323	N	0.956973	D	0.89917	1.0	D	0.77004	0.989	T	0.01925	-1.1246	10	0.87932	D	0	-19.9864	6.894	0.24245	0.0:0.7723:0.0:0.2277	.	311	Q02386	ZNF45_HUMAN	N	311	ENSP00000269973:K311N	ENSP00000269973:K311N	K	-	3	2	ZNF45	49110495	0.005000	0.15991	0.999000	0.59377	0.949000	0.60115	0.075000	0.14686	0.779000	0.33543	0.462000	0.41574	AAG		0.468	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1		NM_003425		16	47	0	0	0	0.003163	0	16	47		
ERCC2	2068	broad.mit.edu	37	19	45867774	45867774	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:45867774T>C	ENST00000391945.4	-	8	703	c.626A>G	c.(625-627)tAc>tGc	p.Y209C	ERCC2_ENST00000391940.4_Missense_Mutation_p.Y185C|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Missense_Mutation_p.Y131C|ERCC2_ENST00000485403.2_Missense_Mutation_p.Y185C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	209	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAGGTAGTGGTAGCTATAAAC	0.632			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(625-627)TAC>TGC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							48.0	40.0	43.0					19																	45867774		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867774T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.626A>G	19.37:g.45867774T>C	ENSP00000375809:p.Tyr209Cys					ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.Y131C|ERCC2_uc002pbk.2_Missense_Mutation_p.Y185C|ERCC2_uc002pbl.3_Missense_Mutation_p.Y185C|ERCC2_uc010xxj.1_Intron	p.Y209C	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	673	-		Ovarian(192;0.0728)|all_neural(266;0.112)	209			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.626A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242615	0.79912	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	D;D;D	0.85702	-2.02;-2.02;-2.02	4.62	4.62	0.57501	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.96089	0.9060	10	0.87932	D	0	-32.5952	12.2825	0.54771	0.0:0.0:0.0:1.0	.	131;185;209	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	C	159;185;209;131;185	ENSP00000375809:Y209C;ENSP00000375808:Y131C;ENSP00000375804:Y185C	ENSP00000375804:Y185C	Y	-	2	0	ERCC2	50559614	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.538000	0.67193	2.057000	0.61298	0.459000	0.35465	TAC		0.632	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		14	39	0	0	0	0.020292	0	14	39		
LMTK3	114783	broad.mit.edu	37	19	49005723	49005723	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:49005723A>G	ENST00000600059.1	-	7	988	c.761T>C	c.(760-762)cTg>cCg	p.L254P	LMTK3_ENST00000270238.3_Missense_Mutation_p.L283P			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CAGGTGCGCCAGCCCGCGGGC	0.711																																						uc002pjk.2		NaN																	0				lung(5)|central_nervous_system(1)	6						c.(847-849)CTG>CCG		lemur tyrosine kinase 3							23.0	28.0	26.0					19																	49005723		1950	4132	6082	SO:0001583	missense	114783							g.chr19:49005723A>G	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.761T>C	19.37:g.49005723A>G	ENSP00000472020:p.Leu254Pro						p.L283P	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	8	848	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.848T>C		.	.	.	.	.	.	.	.	.	.	A	23.9	4.471758	0.84533	.	.	ENSG00000142235	ENST00000270238	D	0.84660	-1.88	3.6	3.6	0.41247	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	U	0.000058	D	0.93739	0.7999	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94373	0.7597	10	0.87932	D	0	.	10.4622	0.44585	1.0:0.0:0.0:0.0	.	254	Q96Q04	LMTK3_HUMAN	P	283	ENSP00000270238:L283P	ENSP00000270238:L283P	L	-	2	0	LMTK3	53697535	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.353000	0.73032	1.645000	0.50612	0.443000	0.29094	CTG		0.711	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1		NM_052895		11	70	0	0	0	0.010729	0	11	70		
PTH2	113091	broad.mit.edu	37	19	49925885	49925885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:49925885C>T	ENST00000270631.1	-	2	244	c.143G>A	c.(142-144)gGa>gAa	p.G48E	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	48					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		CCAGGCCCGTCCTGGGGGGCG	0.756																																						uc002pnn.1		NaN																	0					0						c.(142-144)GGA>GAA		parathyroid hormone 2 preproprotein							2.0	2.0	2.0					19																	49925885		1124	2341	3465	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49925885C>T	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.143G>A	19.37:g.49925885C>T	ENSP00000270631:p.Gly48Glu						p.G48E	NM_178449	NP_848544	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	2	245	-			48					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.143G>A	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	c	11.74	1.730133	0.30684	.	.	ENSG00000142538	ENST00000270631	.	.	.	2.92	-0.776	0.10984	.	0.450396	0.19796	U	0.105879	T	0.19005	0.0456	N	0.24115	0.695	0.09310	N	1	B	0.29646	0.253	B	0.30716	0.119	T	0.10636	-1.0621	9	0.46703	T	0.11	-0.9473	3.5296	0.07771	0.4375:0.4298:0.0:0.1327	.	48	Q96A98	TIP39_HUMAN	E	48	.	ENSP00000270631:G48E	G	-	2	0	PTH2	54617697	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.310000	0.08135	-0.048000	0.13401	0.282000	0.19409	GGA		0.756	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1		NM_178449		5	6	0	0	0	0.014758	0	5	6		
FUZ	80199	broad.mit.edu	37	19	50311871	50311871	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:50311871C>T	ENST00000313777.4	-	9	1081	c.918G>A	c.(916-918)ctG>ctA	p.L306L	FUZ_ENST00000445575.2_Silent_p.L306L|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000534008.1_5'Flank|FUZ_ENST00000528094.1_Silent_p.L270L|FUZ_ENST00000533418.1_Silent_p.L256L	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	306	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GGCAGCGCTTCAGTTCCAGGT	0.657																																						uc002ppq.1		NaN																	0					0						c.(916-918)CTG>CTA		fuzzy homolog							50.0	45.0	46.0					19																	50311871		2201	4297	6498	SO:0001819	synonymous_variant	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50311871C>T	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.918G>A	19.37:g.50311871C>T						FUZ_uc002ppr.1_Silent_p.L206L|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Silent_p.L270L|FUZ_uc002ppv.1_Silent_p.L256L	p.L306L	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	9	1023	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	306			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	Silent	SNP	ENST00000313777.4	37	c.918G>A	CCDS12781.1																																																																																				0.657	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1		NM_025129		13	13	0	0	0	0.020292	0	13	13		
FUZ	80199	broad.mit.edu	37	19	50312751	50312751	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:50312751C>T	ENST00000313777.4	-	6	737	c.574G>A	c.(574-576)Gag>Aag	p.E192K	FUZ_ENST00000445575.2_Missense_Mutation_p.E192K|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000534008.1_5'Flank|FUZ_ENST00000528094.1_Missense_Mutation_p.E156K|FUZ_ENST00000533418.1_Missense_Mutation_p.E142K	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	192					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CACCAACCCTCTGTTGCTGCC	0.721																																						uc002ppq.1		NaN																	0					0						c.(574-576)GAG>AAG		fuzzy homolog							10.0	13.0	12.0					19																	50312751		2180	4268	6448	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50312751C>T	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.574G>A	19.37:g.50312751C>T	ENSP00000313309:p.Glu192Lys					FUZ_uc002ppr.1_Missense_Mutation_p.E92K|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.E156K|FUZ_uc002ppv.1_Missense_Mutation_p.E142K	p.E192K	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	6	679	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	192					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.574G>A	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032215	0.54790	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.61	3.51	0.40186	.	0.473208	0.20952	N	0.082727	T	0.22975	0.0555	L	0.50333	1.59	0.54753	D	0.999985	B;B	0.31548	0.328;0.04	B;B	0.27380	0.079;0.047	T	0.10474	-1.0628	10	0.54805	T	0.06	-17.303	12.0568	0.53540	0.0:0.8266:0.1734:0.0	.	156;192	Q9BT04-3;Q9BT04	.;FUZZY_HUMAN	K	156;142;192;192;92;192;142	ENSP00000435177:E156K;ENSP00000431731:E142K;ENSP00000313309:E192K;ENSP00000408018:E192K	ENSP00000313309:E192K	E	-	1	0	FUZ	55004563	0.995000	0.38212	0.827000	0.32855	0.541000	0.35023	3.712000	0.54875	2.393000	0.81446	0.462000	0.41574	GAG		0.721	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1		NM_025129		4	11	0	0	0	0.009096	0	4	11		
ITSN2	50618	broad.mit.edu	37	2	24535188	24535188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:24535188G>A	ENST00000355123.4	-	5	688	c.245C>T	c.(244-246)gCt>gTt	p.A82V	ITSN2_ENST00000406921.3_Missense_Mutation_p.A82V|ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Missense_Mutation_p.A82V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	82	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTTCATAGCTATGGAGAA	0.443																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(244-246)GCT>GTT		intersectin 2 isoform 1							206.0	170.0	182.0					2																	24535188		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24535188G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.245C>T	2.37:g.24535188G>A	ENSP00000347244:p.Ala82Val					ITSN2_uc002rff.2_Missense_Mutation_p.A82V|ITSN2_uc002rfg.2_Missense_Mutation_p.A82V|ITSN2_uc010eyd.2_Missense_Mutation_p.A82V	p.A82V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			5	503	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		82			EH 1.|EF-hand 1.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.245C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	33	5.267871	0.95399	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	5.07	5.07	0.68467	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.36854	U	0.002373	T	0.71796	0.3382	H	0.94847	3.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.87578	0.998;0.998;0.998;0.986	T	0.80174	-0.1492	10	0.87932	D	0	.	18.6274	0.91346	0.0:0.0:1.0:0.0	.	82;82;82;82	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	V	82;82;82;81;82;82;68	ENSP00000354561:A82V;ENSP00000347244:A82V;ENSP00000370250:A82V;ENSP00000384499:A82V;ENSP00000391224:A82V;ENSP00000391715:A68V	ENSP00000347244:A82V	A	-	2	0	ITSN2	24388692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.809000	0.96659	0.655000	0.94253	GCT		0.443	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		40	58	0	0	0	0.00874	0	40	58		
ZNF513	130557	broad.mit.edu	37	2	27603386	27603386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:27603386C>T	ENST00000323703.6	-	1	206	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_5'Flank	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	3					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCTTCCTTCGGGGCATCGT	0.711																																						uc002rkk.2		NaN																	0				ovary(1)	1						c.(7-9)CGA>CAA		zinc finger protein 513							22.0	19.0	20.0					2																	27603386		2200	4298	6498	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27603386C>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.8G>A	2.37:g.27603386C>T	ENSP00000318373:p.Arg3Gln					ZNF513_uc002rkj.2_5'Flank	p.R3Q	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			1	208	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.8G>A	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684759	0.88639	.	.	ENSG00000163795	ENST00000323703	T	0.17054	2.3	4.25	3.29	0.37713	.	1.061000	0.07528	N	0.911710	T	0.28333	0.0700	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.09707	-1.0662	10	0.56958	D	0.05	0.6058	12.4723	0.55794	0.0:0.8304:0.1696:0.0	.	3	Q8N8E2	ZN513_HUMAN	Q	3	ENSP00000318373:R3Q	ENSP00000318373:R3Q	R	-	2	0	ZNF513	27456890	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	2.790000	0.47821	2.082000	0.62665	0.555000	0.69702	CGA		0.711	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2		NM_144631		7	8	0	0	0	0.006214	0	7	8		
BIRC6	57448	broad.mit.edu	37	2	32738106	32738107	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:32738106_32738107GG>AT	ENST00000421745.2	+	54	10587_10588	c.10453_10454GG>AT	c.(10453-10455)GGt>ATt	p.G3485I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3485					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTAGAGTATGGTCTTCTGATG	0.455																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10453-10455)GGT>ATT		baculoviral IAP repeat-containing 6																																				SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32738106_32738107GG>AT	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	Exception_encountered	2.37:g.32738106_32738107delinsAT	ENSP00000393596:p.Gly3485Ile						p.G3485I	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			54	10587_10588	+	Acute lymphoblastic leukemia(172;0.155)		3485					Q9ULD1	Missense_Mutation	DNP	ENST00000421745.2	37	c.10453_10454GG>AT	CCDS33175.2																																																																																				0.455	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		10	81	0	0	0	0.004672	0	10	81		
MAP4K3	8491	broad.mit.edu	37	2	39499674	39499674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:39499674G>A	ENST00000263881.3	-	25	2128	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.R155*|MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.R518*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.R581*	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	602	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTACACCTTCGAGGGAATAGC	0.294																																						uc002rro.2		NaN																	0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(1804-1806)CGA>TGA		mitogen-activated protein kinase kinase kinase							71.0	74.0	73.0					2																	39499674		2203	4299	6502	SO:0001587	stop_gained	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39499674G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1804C>T	2.37:g.39499674G>A	ENSP00000263881:p.Arg602*					MAP4K3_uc002rrp.2_Nonsense_Mutation_p.R581*|MAP4K3_uc010yns.1_Nonsense_Mutation_p.R155*	p.R602*	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			25	1895	-		all_hematologic(82;0.211)	602			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Nonsense_Mutation	SNP	ENST00000263881.3	37	c.1804C>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	41	8.882973	0.98990	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5837	0.95482	0.0:0.0:1.0:0.0	.	.	.	.	X	602;518;581;155	.	ENSP00000263881:R602X	R	-	1	2	MAP4K3	39353178	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.011000	0.57124	2.630000	0.89119	0.655000	0.94253	CGA		0.294	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2		NM_003618		32	72	0	0	0	0.005524	0	32	72		
SPRED2	200734	broad.mit.edu	37	2	65543912	65543912	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:65543912G>A	ENST00000356388.4	-	5	733	c.544C>T	c.(544-546)Cac>Tac	p.H182Y	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.H179Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	182					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TCGTGGAGGTGGCCCAGGGTA	0.537																																						uc002sdr.3		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(544-546)CAC>TAC		sprouty-related protein with EVH-1 domain 2							136.0	127.0	130.0					2																	65543912		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65543912G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.544C>T	2.37:g.65543912G>A	ENSP00000348753:p.His182Tyr					SPRED2_uc010fcw.2_Missense_Mutation_p.H179Y	p.H182Y	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN			5	1079	-			182					A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.544C>T	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812648	0.32053	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315	T;T;T	0.77229	-1.07;-1.08;-1.08	5.05	5.05	0.67936	.	0.497601	0.22004	N	0.065961	T	0.66528	0.2798	L	0.43152	1.355	0.48341	D	0.999637	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.59386	-0.7464	10	0.02654	T	1	-25.077	13.401	0.60883	0.0:0.0:0.8428:0.1572	.	179;182	E9PEP0;Q7Z698	.;SPRE2_HUMAN	Y	182;179;197	ENSP00000348753:H182Y;ENSP00000393697:H179Y;ENSP00000390595:H197Y	ENSP00000348753:H182Y	H	-	1	0	SPRED2	65397416	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.513000	0.67037	2.349000	0.79799	0.650000	0.86243	CAC		0.537	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1				9	25	0	0	0	0.004482	0	9	25		
SLC4A5	57835	broad.mit.edu	37	2	74531720	74531720	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:74531720T>G	ENST00000377634.4	-	7	566	c.167A>C	c.(166-168)aAa>aCa	p.K56T	SLC4A5_ENST00000394019.2_Missense_Mutation_p.K56T|SLC4A5_ENST00000359484.4_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.K56T|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000423644.1_Missense_Mutation_p.K56T|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000346834.4_Missense_Mutation_p.K56T|SLC4A5_ENST00000357822.5_Missense_Mutation_p.K56T					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCAGTGGACTTTTTGCAGGCC	0.572																																						uc002sko.1		NaN																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(166-168)AAA>ACA		sodium bicarbonate transporter 4 isoform a							89.0	87.0	88.0					2																	74531720		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74531720T>G	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.167A>C	2.37:g.74531720T>G	ENSP00000366861:p.Lys56Thr					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.K56T|SLC4A5_uc010ffc.1_Missense_Mutation_p.K56T|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Missense_Mutation_p.K56T	p.K56T	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			2	169	-			56			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.167A>C	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383349	0.42207	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000423644;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000444570;ENST00000436454	T;T;T;T;T;T;T	0.78126	-1.15;-0.96;-0.59;-1.15;-0.96;-1.15;-0.3	4.6	3.4	0.38934	.	2.843910	0.01126	N	0.005885	T	0.74846	0.3770	L	0.59436	1.845	0.26478	N	0.975169	B;B;B;B	0.33073	0.231;0.396;0.201;0.066	B;B;B;B	0.29785	0.075;0.107;0.068;0.068	T	0.57248	-0.7844	10	0.37606	T	0.19	.	7.2782	0.26296	0.0:0.1023:0.0:0.8977	.	56;56;56;56	Q9BY07-4;E7EQT3;Q9BY07;Q9BY07-3	.;.;S4A5_HUMAN;.	T	56	ENSP00000377587:K56T;ENSP00000251768:K56T;ENSP00000395804:K56T;ENSP00000350475:K56T;ENSP00000366859:K56T;ENSP00000366861:K56T;ENSP00000405678:K56T	ENSP00000251768:K56T	K	-	2	0	SLC4A5	74385228	1.000000	0.71417	0.897000	0.35233	0.891000	0.51852	1.885000	0.39678	0.857000	0.35407	0.377000	0.23210	AAA		0.572	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3				32	182	0	0	0	0.012213	0	32	182		
DQX1	165545	broad.mit.edu	37	2	74752218	74752218	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:74752218C>T	ENST00000404568.3	-	3	568	c.349G>A	c.(349-351)Gat>Aat	p.D117N	DQX1_ENST00000393951.2_Missense_Mutation_p.D117N|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	117	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCCATCTCATCAGCAACCCGC	0.622																																						uc010yrw.1		NaN																	0				ovary(2)	2						c.(349-351)GAT>AAT		DEAQ box polypeptide 1 (RNA-dependent ATPase)							62.0	64.0	63.0					2																	74752218		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74752218C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.349G>A	2.37:g.74752218C>T	ENSP00000384621:p.Asp117Asn					DQX1_uc002smc.2_5'Flank	p.D117N	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			3	514	-			117			Helicase ATP-binding.		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.349G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	32	5.177944	0.94846	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.25250	1.81;1.81	5.35	5.35	0.76521	DEAD-like helicase (2);	.	.	.	.	T	0.30572	0.0769	L	0.60845	1.875	0.48571	D	0.999672	P	0.48503	0.911	B	0.42282	0.382	T	0.06661	-1.0814	9	0.56958	D	0.05	.	16.5911	0.84765	0.0:1.0:0.0:0.0	.	117	Q8TE96	DQX1_HUMAN	N	117	ENSP00000377523:D117N;ENSP00000384621:D117N	ENSP00000377523:D117N	D	-	1	0	DQX1	74605726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.532000	0.67154	2.781000	0.95711	0.655000	0.94253	GAT		0.622	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3		NM_133637		33	179	0	0	0	0.013726	0	33	179		
REG1B	5968	broad.mit.edu	37	2	79312628	79312628	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:79312628A>C	ENST00000305089.3	-	5	503	c.423T>G	c.(421-423)acT>acG	p.T141T		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	141	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CTGAGCATGAAGTCAGGCTTG	0.547																																						uc002sny.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(421-423)ACT>ACG		regenerating islet-derived 1 beta precursor							78.0	68.0	72.0					2																	79312628		2203	4300	6503	SO:0001819	synonymous_variant	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312628A>C		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.423T>G	2.37:g.79312628A>C							p.T141T	NM_006507	NP_006498	P48304	REG1B_HUMAN			5	535	-			141			C-type lectin.			Silent	SNP	ENST00000305089.3	37	c.423T>G	CCDS1963.1																																																																																				0.547	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2		NM_006507		37	81	0	0	0	0.021022	0	37	81		
CTNNA2	1496	broad.mit.edu	37	2	80646672	80646672	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:80646672G>A	ENST00000402739.4	+	8	1241	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K	CTNNA2_ENST00000343114.3_Silent_p.K91K|CTNNA2_ENST00000496558.1_Silent_p.K412K|CTNNA2_ENST00000541047.1_Silent_p.K412K|CTNNA2_ENST00000540488.1_Silent_p.K412K|CTNNA2_ENST00000361291.4_Silent_p.K446K|CTNNA2_ENST00000466387.1_Silent_p.K412K	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	412					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E413*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAATGAAAAGGAAGTGAAAG	0.453																																						uc010ysh.1		NaN																	1	Substitution - Nonsense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1234-1236)AAG>AAA		catenin, alpha 2 isoform 1							117.0	116.0	116.0					2																	80646672		2042	4231	6273	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80646672G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1236G>A	2.37:g.80646672G>A						CTNNA2_uc010yse.1_Silent_p.K412K|CTNNA2_uc010ysf.1_Silent_p.K412K|CTNNA2_uc010ysg.1_Silent_p.K412K|CTNNA2_uc010ysi.1_Silent_p.K44K	p.K412K	NM_004389	NP_004380	P26232	CTNA2_HUMAN			8	1241	+			412					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1236G>A																																																																																					0.453	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4		NM_004389		24	64	0	0	0	0.01892	0	24	64		
TRIM43	129868	broad.mit.edu	37	2	96259801	96259801	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:96259801G>C	ENST00000272395.2	+	2	166	c.30G>C	c.(28-30)caG>caC	p.Q10H		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	10						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q10H(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATGCCTTCCAGAAGGAACTCA	0.483																																						uc002suv.2		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(28-30)CAG>CAC		tripartite motif-containing 43							118.0	118.0	118.0					2																	96259801		2201	4298	6499	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96259801G>C	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.30G>C	2.37:g.96259801G>C	ENSP00000272395:p.Gln10His						p.Q10H	NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN			2	166	+			10					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.30G>C	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	8.886	0.952729	0.18431	.	.	ENSG00000144015	ENST00000272395	T	0.17528	2.27	1.46	-0.884	0.10597	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.13286	0.0322	L	0.46885	1.475	0.24069	N	0.995983	P	0.50819	0.939	B	0.42214	0.38	T	0.15752	-1.0426	9	0.66056	D	0.02	-2.5501	3.3585	0.07178	0.1796:0.0:0.5723:0.248	.	10	Q96BQ3	TRI43_HUMAN	H	10	ENSP00000272395:Q10H	ENSP00000272395:Q10H	Q	+	3	2	TRIM43	95623528	0.037000	0.19845	0.009000	0.14445	0.051000	0.14879	0.239000	0.18023	-0.262000	0.09392	0.386000	0.25728	CAG		0.483	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1		NM_138800		108	99	0	0	0	0.01441	0	108	99		
SULT1C4	27233	broad.mit.edu	37	2	108999925	108999925	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:108999925A>G	ENST00000272452.2	+	5	900	c.574A>G	c.(574-576)Aaa>Gaa	p.K192E	SULT1C4_ENST00000409309.3_Missense_Mutation_p.K117E	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	192					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGCCAAAGACAAACACCGTAT	0.463																																						uc002tea.1		NaN																	0					0						c.(574-576)AAA>GAA		sulfotransferase family, cytosolic, 1C, member							139.0	117.0	125.0					2																	108999925		2203	4300	6503	SO:0001583	missense	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108999925A>G	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.574A>G	2.37:g.108999925A>G	ENSP00000272452:p.Lys192Glu					SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Missense_Mutation_p.K117E	p.K192E	NM_006588	NP_006579	O75897	ST1C4_HUMAN			5	947	+			192					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	c.574A>G	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	A	3.942	-0.013946	0.07681	.	.	ENSG00000198075	ENST00000272452;ENST00000409309	T;T	0.01705	4.68;4.68	4.76	-3.97	0.04094	Sulfotransferase domain (1);	1.132100	0.06629	N	0.758840	T	0.01029	0.0034	N	0.17838	0.53	0.09310	N	1	B;B	0.17667	0.023;0.002	B;B	0.21360	0.034;0.029	T	0.47420	-0.9119	10	0.02654	T	1	.	3.6762	0.08292	0.5764:0.1798:0.0943:0.1496	.	117;192	Q08AS5;O75897	.;ST1C4_HUMAN	E	192;117	ENSP00000272452:K192E;ENSP00000387225:K117E	ENSP00000272452:K192E	K	+	1	0	SULT1C4	108366357	0.000000	0.05858	0.000000	0.03702	0.646000	0.38490	-0.194000	0.09559	-0.531000	0.06340	-1.441000	0.01070	AAA		0.463	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1		NM_006588		48	28	0	0	0	0.01441	0	48	28		
LIMS1	3987	broad.mit.edu	37	2	109292446	109292446	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:109292446C>G	ENST00000393310.1	+	6	774	c.607C>G	c.(607-609)Cgc>Ggc	p.R203G	LIMS1_ENST00000338045.3_Missense_Mutation_p.R203G|LIMS1_ENST00000409441.1_Missense_Mutation_p.R240G|AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000542845.1_Missense_Mutation_p.R265G|LIMS1_ENST00000410093.1_Missense_Mutation_p.R207G|LIMS1_ENST00000544547.1_Missense_Mutation_p.R215G|LIMS1_ENST00000332345.6_Missense_Mutation_p.R203G	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CATCGAAGGGCGCGTGGTGAA	0.542																																						uc002teg.2		NaN																	0					0						c.(607-609)CGC>GGC		LIM and senescent cell antigen-like domains 1							44.0	39.0	41.0					2																	109292446		2203	4300	6503	SO:0001583	missense	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109292446C>G		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.607C>G	2.37:g.109292446C>G	ENSP00000376987:p.Arg203Gly					LIMS1_uc002tef.2_Missense_Mutation_p.R215G|LIMS1_uc002teh.2_Missense_Mutation_p.R203G|LIMS1_uc002tei.2_Missense_Mutation_p.R203G|LIMS1_uc002tej.2_Missense_Mutation_p.R240G|LIMS1_uc002tek.3_Missense_Mutation_p.R265G	p.R203G	NM_004987	NP_004978	P48059	LIMS1_HUMAN			6	726	+			203			LIM zinc-binding 4.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	c.607C>G	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.479863	0.44044	.	.	ENSG00000169756	ENST00000544547;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845	D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.34	3.56	0.40772	Zinc finger, LIM-type (5);	0.078602	0.51477	D	0.000086	D	0.92224	0.7534	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.993;0.993;0.997	D	0.92416	0.5941	10	0.87932	D	0	.	14.9484	0.71050	0.0:0.923:0.0:0.077	.	265;240;203;215	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	G	215;203;203;207;240;203;265	ENSP00000437912:R215G;ENSP00000331775:R203G;ENSP00000376987:R203G;ENSP00000386926:R207G;ENSP00000387264:R240G;ENSP00000337598:R203G;ENSP00000446121:R265G	ENSP00000331775:R203G	R	+	1	0	LIMS1	108658878	0.999000	0.42202	0.965000	0.40720	0.035000	0.12851	3.944000	0.56629	0.653000	0.30826	-1.281000	0.01382	CGC		0.542	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1		NM_004987		43	26	0	0	0	0.007835	0	43	26		
ACTR3	10096	broad.mit.edu	37	2	114713209	114713209	+	Missense_Mutation	SNP	A	A	G	rs375902041		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:114713209A>G	ENST00000263238.2	+	11	1407	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	ACTR3_ENST00000535589.2_Missense_Mutation_p.I312V|ACTR3_ENST00000536059.1_Missense_Mutation_p.I301V	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	363					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GCCAAAACCTATTGATGTACA	0.343																																						uc002tkx.1		NaN																	0				skin(1)	1						c.(1087-1089)ATT>GTT		ARP3 actin-related protein 3 homolog		A	VAL/ILE	0,4406		0,0,2203	148.0	129.0	136.0		1087	4.0	1.0	2		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTR3	NM_005721.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	363/419	114713209	1,13005	2203	4300	6503	SO:0001583	missense	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114713209A>G	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.1087A>G	2.37:g.114713209A>G	ENSP00000263238:p.Ile363Val					ACTR3_uc010yyc.1_Missense_Mutation_p.I301V|ACTR3_uc010yyd.1_Missense_Mutation_p.I312V	p.I363V	NM_005721	NP_005712	P61158	ARP3_HUMAN			11	1407	+			363					P32391|Q53QM2	Missense_Mutation	SNP	ENST00000263238.2	37	c.1087A>G	CCDS33277.1	.	.	.	.	.	.	.	.	.	.	A	8.819	0.937069	0.18206	0.0	1.16E-4	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	T;T;T	0.07688	3.17;3.17;3.17	4.04	4.04	0.47022	.	0.506572	0.22217	N	0.063017	T	0.07548	0.0190	L	0.39566	1.225	0.48236	D	0.999614	B;B	0.02656	0.0;0.0	B;B	0.12156	0.004;0.007	T	0.18587	-1.0332	10	0.13853	T	0.58	-21.8235	11.7169	0.51659	1.0:0.0:0.0:0.0	.	301;363	F5H3P5;P61158	.;ARP3_HUMAN	V	363;301;234;312	ENSP00000263238:I363V;ENSP00000445257:I301V;ENSP00000444987:I312V	ENSP00000263238:I363V	I	+	1	0	ACTR3	114429679	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.746000	0.91604	1.715000	0.51383	0.454000	0.30748	ATT		0.343	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2		NM_005721		7	60	0	0	0	0.001984	0	7	60		
CNTNAP5	129684	broad.mit.edu	37	2	125175130	125175130	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:125175130G>C	ENST00000431078.1	+	4	856	c.492G>C	c.(490-492)aaG>aaC	p.K164N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	164	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAGTGGGAAGATTGGCATGA	0.498																																						uc002tno.2		NaN																	0				ovary(10)	10						c.(490-492)AAG>AAC		contactin associated protein-like 5 precursor							92.0	95.0	94.0					2																	125175130		1981	4161	6142	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175130G>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.492G>C	2.37:g.125175130G>C	ENSP00000399013:p.Lys164Asn					CNTNAP5_uc010flu.2_Missense_Mutation_p.K164N	p.K164N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	856	+			164			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.492G>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328598	0.41197	.	.	ENSG00000155052	ENST00000431078	D	0.98150	-4.75	6.17	2.31	0.28768	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.252376	0.27673	N	0.018335	D	0.92658	0.7667	N	0.12961	0.28	0.30581	N	0.762514	B	0.10296	0.003	B	0.12156	0.007	D	0.87633	0.2517	10	0.54805	T	0.06	.	8.8231	0.35039	0.3701:0.0:0.6299:0.0	.	164	Q8WYK1	CNTP5_HUMAN	N	164	ENSP00000399013:K164N	ENSP00000399013:K164N	K	+	3	2	CNTNAP5	124891600	1.000000	0.71417	0.866000	0.34008	0.926000	0.56050	1.324000	0.33712	0.156000	0.19299	-0.742000	0.03525	AAG		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3				10	9	0	0	0	0.008291	0	10	9		
RIF1	55183	broad.mit.edu	37	2	152317679	152317679	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:152317679G>T	ENST00000243326.5	+	26	3586	c.3103G>T	c.(3103-3105)Gta>Tta	p.V1035L	RIF1_ENST00000430328.2_Missense_Mutation_p.V1035L|RIF1_ENST00000428287.2_Missense_Mutation_p.V1035L|RIF1_ENST00000453091.2_Missense_Mutation_p.V1035L|RIF1_ENST00000444746.2_Missense_Mutation_p.V1035L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GTCTTTAAAAGTAAAGGGTGA	0.318																																						uc002txm.2		NaN																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(3103-3105)GTA>TTA		RAP1 interacting factor 1							63.0	68.0	66.0					2																	152317679		2203	4299	6502	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152317679G>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3103G>T	2.37:g.152317679G>T	ENSP00000243326:p.Val1035Leu					RIF1_uc002txl.2_Missense_Mutation_p.V1035L|RIF1_uc002txn.2_Missense_Mutation_p.V1035L|RIF1_uc002txo.2_Missense_Mutation_p.V1035L|RIF1_uc002txp.2_5'Flank	p.V1035L	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	27	3233	+			1035					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.3103G>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	4.969	0.179967	0.09443	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.49	-6.75	0.01738	.	0.735053	0.13167	N	0.408581	T	0.07593	0.0191	N	0.03154	-0.405	0.20764	N	0.999857	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23368	-1.0190	10	0.21014	T	0.42	0.0071	0.385	0.00401	0.2458:0.2291:0.2666:0.2584	.	1035;1035	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	L	1035	ENSP00000390181:V1035L;ENSP00000414615:V1035L;ENSP00000415691:V1035L;ENSP00000243326:V1035L;ENSP00000416123:V1035L	ENSP00000243326:V1035L	V	+	1	0	RIF1	152025925	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.087000	0.03383	-0.725000	0.04901	0.603000	0.83216	GTA		0.318	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3				14	47	1	0	6.31663e-08	0.003163	7.0541e-08	14	47		
CYTIP	9595	broad.mit.edu	37	2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A	rs367635230		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:158272436G>A	ENST00000264192.3	-	8	954	c.833C>T	c.(832-834)aCg>aTg	p.T278M	CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 6; AAA16575). {ECO:0000305}.	regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTGTACTCGTCTGCCGACT	0.542																																						uc002tzj.1		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(832-834)ACG>ATG		cytohesin 1 interacting protein							98.0	91.0	93.0					2																	158272436		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272436G>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.833C>T	2.37:g.158272436G>A	ENSP00000264192:p.Thr278Met					CYTIP_uc010zcl.1_Missense_Mutation_p.T172M	p.T278M	NM_004288	NP_004279	O60759	CYTIP_HUMAN			8	905	-			278	T -> Q (in Ref. 5; AAA16575).		Ser-rich.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.833C>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896619	0.91962	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.46451	2.17;0.87	5.96	5.96	0.96718	.	0.307228	0.35067	N	0.003468	T	0.57917	0.2086	M	0.63428	1.95	0.36972	D	0.89387	D	0.89917	1.0	P	0.54706	0.759	T	0.61840	-0.6980	10	0.52906	T	0.07	-7.0724	19.9958	0.97383	0.0:0.0:1.0:0.0	.	278	O60759	CYTIP_HUMAN	M	278;172	ENSP00000264192:T278M;ENSP00000440801:T172M	ENSP00000264192:T278M	T	-	2	0	CYTIP	157980682	0.998000	0.40836	0.994000	0.49952	0.945000	0.59286	4.193000	0.58385	2.826000	0.97356	0.655000	0.94253	ACG		0.542	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1		NM_004288		20	50	0	0	0	0.007413	0	20	50		
DCAF17	80067	broad.mit.edu	37	2	172305301	172305301	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:172305301A>G	ENST00000375255.3	+	4	759	c.432A>G	c.(430-432)atA>atG	p.I144M	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.I144M	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	144					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTGAGAAAATATATCTTGCAC	0.333																																						uc002ugx.2		NaN																	0					0						c.(430-432)ATA>ATG		DDB1 and CUL4 associated factor 17 isoform 1							75.0	72.0	73.0					2																	172305301		1807	4067	5874	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172305301A>G	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.432A>G	2.37:g.172305301A>G	ENSP00000364404:p.Ile144Met					DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.I144M|DCAF17_uc010zdr.1_RNA	p.I144M	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN			4	661	+			144					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.432A>G	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932309	0.52866	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.52295	0.68;0.67	4.83	2.0	0.26442	.	0.068863	0.56097	D	0.000028	T	0.41328	0.1154	L	0.40543	1.245	0.25395	N	0.988493	B;B	0.31383	0.321;0.126	B;B	0.40940	0.344;0.191	T	0.40887	-0.9539	10	0.87932	D	0	-4.3466	6.5971	0.22681	0.5734:0.1107:0.0:0.3159	.	144;144	F5H7W1;Q5H9S7	.;DCA17_HUMAN	M	144	ENSP00000364404:I144M;ENSP00000442238:I144M	ENSP00000364404:I144M	I	+	3	3	DCAF17	172013547	0.989000	0.36119	1.000000	0.80357	0.913000	0.54294	0.210000	0.17455	0.668000	0.31126	0.378000	0.23410	ATA		0.333	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2		NM_025000		20	39	0	0	0	0.012319	0	20	39		
EVX2	344191	broad.mit.edu	37	2	176947052	176947052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:176947052C>T	ENST00000308618.4	-	2	689	c.553G>A	c.(553-555)Gcg>Acg	p.A185T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	185					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACTTGATCCGCGCCAGAGCCG	0.721																																						uc010zeu.1		NaN																	0				ovary(2)	2						c.(553-555)GCG>ACG		even-skipped homeobox 2							8.0	9.0	8.0					2																	176947052		2139	4210	6349	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176947052C>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.553G>A	2.37:g.176947052C>T	ENSP00000312385:p.Ala185Thr						p.A185T	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	739	-			185						Missense_Mutation	SNP	ENST00000308618.4	37	c.553G>A	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853758	0.71719	.	.	ENSG00000174279	ENST00000308618	D	0.95690	-3.78	4.59	4.59	0.56863	Homeodomain-related (1);Homeodomain-like (1);	0.215417	0.39544	N	0.001339	D	0.90734	0.7092	N	0.17838	0.53	0.44995	D	0.998016	B	0.21688	0.059	B	0.10450	0.005	D	0.87255	0.2275	10	0.33141	T	0.24	-18.1374	17.1717	0.86832	0.0:1.0:0.0:0.0	.	185	Q03828	EVX2_HUMAN	T	185	ENSP00000312385:A185T	ENSP00000312385:A185T	A	-	1	0	EVX2	176655298	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.534000	0.36051	2.396000	0.81511	0.563000	0.77884	GCG		0.721	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1				3	11	0	0	0	0.004672	0	3	11		
TTN	7273	broad.mit.edu	37	2	179433786	179433786	+	Silent	SNP	A	A	G	rs375398118		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179433786A>G	ENST00000591111.1	-	276	72374	c.72150T>C	c.(72148-72150)gaT>gaC	p.D24050D	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Silent_p.D25691D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.D16626D|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.D16751D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.D23123D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.D16818D			Q8WZ42	TITIN_HUMAN	titin	24050	Fibronectin type-III 74. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTAATTGGATCAGCAGTCT	0.438																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(69367-69369)GAT>GAC		titin isoform N2-A		A	,,,	0,3966		0,0,1983	156.0	150.0	152.0		49878,69369,50253,50454	0.7	1.0	2		152	1,8327		0,1,4163	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6146	GG,GA,AA		0.012,0.0,0.0081	,,,	16626/26927,23123/33424,16751/27052,16818/27119	179433786	1,12293	1983	4164	6147	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433786A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72150T>C	2.37:g.179433786A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D16818D|TTN_uc010zfi.1_Silent_p.D16751D|TTN_uc010zfj.1_Silent_p.D16626D	p.D23123D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	69593	-			24050					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.69369T>C																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		34	79	0	0	0	0.013726	0	34	79		
TTN	7273	broad.mit.edu	37	2	179475984	179475984	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179475984C>T	ENST00000591111.1	-	220	46173	c.45949G>A	c.(45949-45951)Gac>Aac	p.D15317N	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D16958N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7893N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8018N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D14390N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8085N			Q8WZ42	TITIN_HUMAN	titin	15317	Ig-like 97.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCCAGGTCAATTGTTGGC	0.353																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(43168-43170)GAC>AAC		titin isoform N2-A							43.0	43.0	43.0					2																	179475984		1884	4109	5993	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179475984C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45949G>A	2.37:g.179475984C>T	ENSP00000465570:p.Asp15317Asn					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D8085N|TTN_uc010zfi.1_Missense_Mutation_p.D8018N|TTN_uc010zfj.1_Missense_Mutation_p.D7893N	p.D14390N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		219	43392	-			15317					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.43168G>A		.	.	.	.	.	.	.	.	.	.	C	15.17	2.752668	0.49362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59032	0.2164	M	0.70275	2.135	0.80722	D	1	P;P;P;P	0.44260	0.83;0.83;0.83;0.83	P;P;P;P	0.50754	0.566;0.566;0.649;0.566	T	0.60520	-0.7247	9	0.87932	D	0	.	20.1859	0.98214	0.0:1.0:0.0:0.0	.	7893;8018;8085;15317	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14390;7893;8085;8018;7893	ENSP00000343764:D14390N;ENSP00000434586:D7893N;ENSP00000340554:D8085N;ENSP00000352154:D8018N	ENSP00000340554:D8085N	D	-	1	0	TTN	179184229	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.777000	0.95525	0.591000	0.81541	GAC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		14	14	0	0	0	0.020292	0	14	14		
CCDC141	285025	broad.mit.edu	37	2	179742771	179742771	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179742771C>T	ENST00000409284.1	-	12	1936	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E32K|CCDC141_ENST00000420890.2_Missense_Mutation_p.E607K			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	607										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CACTGCTTCTCAGCCGAGTCA	0.378																																						uc002unf.1		NaN																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(94-96)GAG>AAG		coiled-coil domain containing 141							90.0	91.0	90.0					2																	179742771		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179742771C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1819G>A	2.37:g.179742771C>T	ENSP00000386503:p.Glu607Lys					CCDC141_uc002ung.2_Missense_Mutation_p.E607K	p.E32K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		2	151	-			32					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000409284.1	37	c.94G>A		.	.	.	.	.	.	.	.	.	.	C	19.71	3.878447	0.72294	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T;T	0.51071	0.72;1.35;1.41;1.36	5.32	4.43	0.53597	.	0.387540	0.21759	N	0.069557	T	0.53384	0.1793	L	0.29908	0.895	0.09310	N	1	B;D	0.64830	0.321;0.994	B;D	0.72982	0.045;0.979	T	0.40365	-0.9567	10	0.39692	T	0.17	-5.0056	11.6548	0.51311	0.0:0.9133:0.0:0.0867	.	607;32	B8ZZB3;Q6ZP82	.;CC141_HUMAN	K	607;51;32;607;542;607	ENSP00000395995:E607K;ENSP00000344627:E51K;ENSP00000295723:E32K;ENSP00000390190:E607K	ENSP00000295723:E32K	E	-	1	0	CCDC141	179451016	0.648000	0.27313	0.259000	0.24435	0.035000	0.12851	1.319000	0.33655	2.471000	0.83476	0.585000	0.79938	GAG		0.378	CCDC141-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000335873.1		NM_173648		26	35	0	0	0	0.01892	0	26	35		
ITGA4	3676	broad.mit.edu	37	2	182347105	182347105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:182347105G>A	ENST00000397033.2	+	8	1289	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	287					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATTCAGCATTGATGAAAAAGA	0.308																																						uc002unu.2		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(859-861)GAT>AAT		integrin alpha 4 precursor	Natalizumab(DB00108)						75.0	70.0	72.0					2																	182347105		1803	4075	5878	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347105G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.859G>A	2.37:g.182347105G>A	ENSP00000380227:p.Asp287Asn					ITGA4_uc010zfl.1_Missense_Mutation_p.D287N	p.D287N	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		8	1622	+			287			FG-GAP 4.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.859G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121439	0.56613	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.05717	3.4;3.4	5.92	5.03	0.67393	.	0.458483	0.25984	N	0.027042	T	0.04815	0.0130	N	0.20807	0.61	0.37512	D	0.917206	B;P	0.44776	0.135;0.843	B;B	0.40506	0.129;0.331	T	0.53201	-0.8472	10	0.13853	T	0.58	.	12.6326	0.56665	0.0:0.1267:0.7416:0.1317	.	287;287	E7EP60;P13612	.;ITA4_HUMAN	N	287	ENSP00000380227:D287N;ENSP00000233573:D287N	ENSP00000233573:D287N	D	+	1	0	ITGA4	182055350	1.000000	0.71417	0.737000	0.30932	0.767000	0.43475	7.003000	0.76310	1.463000	0.47967	0.650000	0.86243	GAT		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1				15	35	0	0	0	0.003163	0	15	35		
CALCRL	10203	broad.mit.edu	37	2	188245285	188245285	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:188245285T>C	ENST00000409998.1	-	8	1098	c.317A>G	c.(316-318)gAc>gGc	p.D106G	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.D106G|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.D106G			Q16602	CALRL_HUMAN	calcitonin receptor-like	106					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TCCATCTTGGTCACAGATCTT	0.328																																						uc002upv.3		NaN																	0				lung(3)|ovary(1)	4						c.(316-318)GAC>GGC		calcitonin receptor-like precursor							189.0	195.0	193.0					2																	188245285		2203	4300	6503	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188245285T>C	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.317A>G	2.37:g.188245285T>C	ENSP00000386972:p.Asp106Gly					CALCRL_uc010frt.2_Missense_Mutation_p.D106G	p.D106G	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		7	865	-			106			Extracellular (Potential).		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.317A>G	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	T	9.724	1.160387	0.21454	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.63417	-0.04;-0.04;-0.04	5.0	5.0	0.66597	GPCR, family 2, extracellular hormone receptor domain (3);	0.179322	0.38897	N	0.001523	T	0.37892	0.1020	N	0.10618	0.005	0.28634	N	0.907493	B	0.02656	0.0	B	0.11329	0.006	T	0.16867	-1.0388	10	0.30078	T	0.28	.	7.5367	0.27714	0.0:0.0938:0.0:0.9062	.	106	Q16602	CALRL_HUMAN	G	106	ENSP00000376177:D106G;ENSP00000386972:D106G;ENSP00000387190:D106G	ENSP00000376177:D106G	D	-	2	0	CALCRL	187953530	0.995000	0.38212	0.999000	0.59377	0.981000	0.71138	2.372000	0.44257	2.225000	0.72522	0.460000	0.39030	GAC		0.328	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1		NM_005795		35	86	0	0	0	0.015359	0	35	86		
DNAH7	56171	broad.mit.edu	37	2	196729415	196729415	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:196729415G>T	ENST00000312428.6	-	41	7064	c.6964C>A	c.(6964-6966)Cac>Aac	p.H2322N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2322	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCTGATGTGCTCTATGGCA	0.448																																						uc002utj.3		NaN																	0				skin(10)|ovary(2)	12						c.(6964-6966)CAC>AAC		dynein, axonemal, heavy chain 7							138.0	136.0	137.0					2																	196729415		1955	4163	6118	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729415G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6964C>A	2.37:g.196729415G>T	ENSP00000311273:p.His2322Asn						p.H2322N	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			41	7065	-			2322			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6964C>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007155	0.54361	.	.	ENSG00000118997	ENST00000312428	T	0.54675	0.56	4.87	4.87	0.63330	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87903	0.2692	10	0.87932	D	0	.	17.7802	0.88522	0.0:0.0:1.0:0.0	.	2322	Q8WXX0	DYH7_HUMAN	N	2322	ENSP00000311273:H2322N	ENSP00000311273:H2322N	H	-	1	0	DNAH7	196437660	1.000000	0.71417	0.999000	0.59377	0.122000	0.20287	9.628000	0.98415	2.535000	0.85469	0.460000	0.39030	CAC		0.448	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		5	60	1	0	3.59834e-05	0.001168	3.97806e-05	5	60		
DNAH7	56171	broad.mit.edu	37	2	196877531	196877531	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:196877531G>A	ENST00000312428.6	-	10	1069	c.969C>T	c.(967-969)gcC>gcT	p.A323A	DNAH7_ENST00000410072.1_Silent_p.A323A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	323	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGTCTCTTTGGCAGAGTCCA	0.323																																						uc002utj.3		NaN																	0				skin(10)|ovary(2)	12						c.(967-969)GCC>GCT		dynein, axonemal, heavy chain 7							85.0	82.0	83.0					2																	196877531		1817	4079	5896	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196877531G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.969C>T	2.37:g.196877531G>A							p.A323A	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			10	1070	-			323			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.969C>T	CCDS42794.1																																																																																				0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		8	55	0	0	0	0.006214	0	8	55		
NIF3L1	60491	broad.mit.edu	37	2	201757014	201757014	+	Silent	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:201757014T>A	ENST00000409020.1	+	2	642	c.348T>A	c.(346-348)gcT>gcA	p.A116A	NIF3L1_ENST00000409357.1_Silent_p.A116A|NIF3L1_ENST00000359683.4_Silent_p.A89A|NIF3L1_ENST00000409588.1_Silent_p.A116A|NIF3L1_ENST00000416651.1_Silent_p.A116A|PPIL3_ENST00000409449.1_5'Flank			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	116					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TGATCCGGGCTCTGGAGAACA	0.547																																						uc002uwm.2		NaN																	0				skin(1)	1						c.(346-348)GCT>GCA		NIF3 NGG1 interacting factor 3-like 1 isoform 1							97.0	95.0	96.0					2																	201757014		1880	4105	5985	SO:0001819	synonymous_variant	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201757014T>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.348T>A	2.37:g.201757014T>A						NIF3L1_uc002uwl.2_Silent_p.A89A|NIF3L1_uc002uwn.2_Silent_p.A89A|NIF3L1_uc002uwo.2_Silent_p.A116A|NIF3L1_uc002uwp.2_Silent_p.A116A|NIF3L1_uc002uwq.2_Silent_p.A116A	p.A116A	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			2	439	+			116					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Silent	SNP	ENST00000409020.1	37	c.348T>A	CCDS46485.1																																																																																				0.547	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1		NM_021824		30	53	0	0	0	0.009535	0	30	53		
IHH	3549	broad.mit.edu	37	2	219920154	219920154	+	Silent	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:219920154T>G	ENST00000295731.6	-	3	1010	c.1011A>C	c.(1009-1011)acA>acC	p.T337T		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	337					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCACCAGTGTCCCATGCT	0.662																																						uc002vjo.1		NaN																	0				breast(1)	1						c.(1009-1011)ACA>ACC		Indian hedgehog homolog precursor							36.0	35.0	35.0					2																	219920154		2203	4300	6503	SO:0001819	synonymous_variant	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920154T>G	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.1011A>C	2.37:g.219920154T>G							p.T337T	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	1011	-		Renal(207;0.0915)	337					B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	c.1011A>C	CCDS33380.1																																																																																				0.662	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2		NM_002181		23	28	0	0	0	0.021523	0	23	28		
ABCB6	10058	broad.mit.edu	37	2	220075494	220075494	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:220075494T>C	ENST00000265316.3	-	16	2511	c.2195A>G	c.(2194-2196)aAg>aGg	p.K732R	ABCB6_ENST00000439002.2_Missense_Mutation_p.K686R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	732	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACGCGCTGCTTCTCCCCGCC	0.622																																						uc002vkc.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(2194-2196)AAG>AGG		ATP-binding cassette, sub-family B, member 6							54.0	54.0	54.0					2																	220075494		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220075494T>C	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2195A>G	2.37:g.220075494T>C	ENSP00000265316:p.Lys732Arg					ABCB6_uc010fwe.1_Missense_Mutation_p.K686R	p.K732R	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	2472	-		Renal(207;0.0474)	732			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.2195A>G	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.709923|5.709923	0.96821|0.96821	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|.	0.93953|.	-3.32;-3.32|.	5.65|5.65	5.65|5.65	0.86999|0.86999	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40719|0.40719	0.1128|0.1128	N|N	0.10837|0.10837	0.055|0.055	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.995;0.999|.	T|T	0.34129|0.34129	-0.9841|-0.9841	10|5	0.87932|.	D|.	0|.	-24.1581|-24.1581	15.559|15.559	0.76223|0.76223	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	686;732|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	R|G	732;686|580	ENSP00000265316:K732R;ENSP00000394333:K686R|.	ENSP00000265316:K732R|.	K|S	-|-	2|1	0|0	ABCB6|ABCB6	219783738|219783738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	5.089000|5.089000	0.64492|0.64492	2.150000|2.150000	0.67090|0.67090	0.455000|0.455000	0.32223|0.32223	AAG|AGC		0.622	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2		NM_005689		8	28	0	0	0	0.008291	0	8	28		
UGT1A9	54600	broad.mit.edu	37	2	234580786	234580786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:234580786C>A	ENST00000354728.4	+	1	288	c.206C>A	c.(205-207)tCa>tAa	p.S69*	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Nonsense_Mutation_p.S69*			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	69					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	CTGGGAAGATCACTGAATTGC	0.498																																						uc002vus.2		NaN																	0				ovary(3)|breast(1)|skin(1)	5						c.(205-207)TCA>TAA		UDP glycosyltransferase 1 family, polypeptide A9	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)						105.0	92.0	97.0					2																	234580786		2203	4300	6503	SO:0001587	stop_gained	54600				drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234580786C>A	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.206C>A	2.37:g.234580786C>A	ENSP00000346768:p.Ser69*					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Nonsense_Mutation_p.S69*	p.S69*	NM_021027	NP_066307	O60656	UD19_HUMAN		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	243	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	69					B8K285|P36509|Q9HAX0	Nonsense_Mutation	SNP	ENST00000354728.4	37	c.206C>A	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	C	37	6.047006	0.97231	.	.	ENSG00000241119	ENST00000354728	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3219	0.43771	0.0:0.9004:0.0:0.0996	.	.	.	.	X	69	.	ENSP00000346768:S69X	S	+	2	0	UGT1A9	234245525	0.000000	0.05858	0.082000	0.20525	0.476000	0.33039	0.844000	0.27654	1.911000	0.55334	0.446000	0.29264	TCA		0.498	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1		NM_021027		14	91	1	0	1.36491e-13	0.016723	1.56804e-13	14	91		
COL6A3	1293	broad.mit.edu	37	2	238283323	238283323	+	Silent	SNP	G	G	A	rs368285658		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:238283323G>A	ENST00000295550.4	-	8	3863	c.3411C>T	c.(3409-3411)atC>atT	p.I1137I	COL6A3_ENST00000347401.3_Silent_p.I936I|COL6A3_ENST00000346358.4_Silent_p.I937I|COL6A3_ENST00000472056.1_Silent_p.I530I|COL6A3_ENST00000409809.1_Silent_p.I931I|COL6A3_ENST00000392003.2_Silent_p.I730I|COL6A3_ENST00000353578.4_Silent_p.I931I|COL6A3_ENST00000392004.3_Silent_p.I931I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1137	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCGTGAGGACGATCAGCAGCT	0.637																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3409-3411)ATC>ATT		alpha 3 type VI collagen isoform 1 precursor		G	,,,,	0,4406		0,0,2203	63.0	61.0	61.0		3411,2190,2793,1590,2793	-5.9	0.3	2		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	1137/3178,730/1037,931/1238,530/2571,931/2972	238283323	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283323G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3411C>T	2.37:g.238283323G>A						COL6A3_uc002vwo.2_Silent_p.I931I|COL6A3_uc010znj.1_Silent_p.I530I|COL6A3_uc002vwq.2_Silent_p.I931I|COL6A3_uc002vwr.2_Silent_p.I730I	p.I1137I	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3696	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1137			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.3411C>T	CCDS33412.1																																																																																				0.637	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		26	43	0	0	0	0.009535	0	26	43		
CDC25B	994	broad.mit.edu	37	20	3781635	3781635	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:3781635G>A	ENST00000245960.5	+	7	1297	c.600G>A	c.(598-600)aaG>aaA	p.K200K	CDC25B_ENST00000439880.2_Silent_p.K186K|CDC25B_ENST00000344256.6_Silent_p.K136K|CDC25B_ENST00000340833.4_Silent_p.K159K|CDC25B_ENST00000379598.5_Silent_p.K136K|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	200					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TTGTCTTCAAGATGCCATGGA	0.637																																						uc002wjn.2		NaN																	0				lung(3)|ovary(2)	5						c.(598-600)AAG>AAA		cell division cycle 25B isoform 1							41.0	40.0	41.0					20																	3781635		2203	4300	6503	SO:0001819	synonymous_variant	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3781635G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.600G>A	20.37:g.3781635G>A						CDC25B_uc010zqk.1_Silent_p.K136K|CDC25B_uc010zql.1_Silent_p.K122K|CDC25B_uc010zqm.1_Silent_p.K136K|CDC25B_uc002wjl.2_Silent_p.K88K|CDC25B_uc002wjm.2_Silent_p.K88K|CDC25B_uc002wjo.2_Silent_p.K186K|CDC25B_uc002wjp.2_Silent_p.K159K|CDC25B_uc002wjq.2_5'UTR|CDC25B_uc010gbc.2_5'Flank	p.K200K	NM_021873	NP_068659	P30305	MPIP2_HUMAN			7	1378	+			200					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP	ENST00000245960.5	37	c.600G>A	CCDS13067.1																																																																																				0.637	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2		NM_021874		13	24	0	0	0	0.013537	0	13	24		
THBD	7056	broad.mit.edu	37	20	23029241	23029241	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:23029241C>T	ENST00000377103.2	-	1	1137	c.901G>A	c.(901-903)Gac>Aac	p.D301N		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	301	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CCCGGCTGGTCGGGGTTGGGA	0.697																																						uc002wss.2		NaN																	0					0						c.(901-903)GAC>AAC		thrombomodulin precursor	Drotrecogin alfa(DB00055)						21.0	22.0	22.0					20																	23029241		2202	4294	6496	SO:0001583	missense	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23029241C>T		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.901G>A	20.37:g.23029241C>T	ENSP00000366307:p.Asp301Asn					THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.D242N	p.D301N	NM_000361	NP_000352	P07204	TRBM_HUMAN			1	1061	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		301			EGF-like 2.|Extracellular (Potential).		Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	37	c.901G>A	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986926	0.18889	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	D	0.86627	-2.15	5.16	-5.41	0.02648	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	2.822720	0.01456	N	0.015692	T	0.70579	0.3240	N	0.21373	0.66	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.66732	-0.5849	10	0.02654	T	1	-2.9237	1.6278	0.02727	0.1967:0.3266:0.0966:0.38	.	301	P07204	TRBM_HUMAN	N	301;283	ENSP00000366307:D301N	ENSP00000366307:D301N	D	-	1	0	THBD	22977241	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.348000	0.02629	-1.082000	0.03101	0.462000	0.41574	GAC		0.697	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2				13	17	0	0	0	0.013537	0	13	17		
PHF20	51230	broad.mit.edu	37	20	34487428	34487428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:34487428G>A	ENST00000374012.3	+	10	1548	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	473					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACTATCACATGAAGTATTTCC	0.478																																						uc002xek.1		NaN																	0				ovary(1)	1						c.(1417-1419)ATG>ATA		PHD finger protein 20							65.0	63.0	64.0					20																	34487428		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34487428G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1419G>A	20.37:g.34487428G>A	ENSP00000363124:p.Met473Ile					PHF20_uc002xei.1_Missense_Mutation_p.M473I|PHF20_uc010gfo.1_Missense_Mutation_p.M473I|PHF20_uc002xej.1_Missense_Mutation_p.M357I	p.M473I	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			10	1530	+	Breast(12;0.00631)|all_lung(11;0.0145)		473			C2H2-type.		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.1419G>A	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506958	0.96386	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.50001	1.41;0.76;0.76	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	L	0.46157	1.445	0.80722	D	1	B;D	0.63880	0.189;0.993	B;D	0.70227	0.054;0.968	T	0.48822	-0.9001	10	0.13853	T	0.58	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	473;473	Q9BVI0;Q66K49	PHF20_HUMAN;.	I	473	ENSP00000363124:M473I;ENSP00000341900:M473I;ENSP00000363112:M473I	ENSP00000341900:M473I	M	+	3	0	PHF20	33950842	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.229000	0.95273	2.865000	0.98341	0.655000	0.94253	ATG		0.478	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436		11	29	0	0	0	0.013537	0	11	29		
ZHX3	23051	broad.mit.edu	37	20	39832302	39832302	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:39832302C>T	ENST00000309060.3	-	4	1670	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	ZHX3_ENST00000540170.1_Missense_Mutation_p.E419K|ZHX3_ENST00000432768.2_Missense_Mutation_p.E419K|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.E419K|ZHX3_ENST00000544979.2_Missense_Mutation_p.E419K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E419K			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	419	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CCTGTACCCTCTGGCTGCCCC	0.582																																						uc002xjs.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1255-1257)GAG>AAG		zinc fingers and homeoboxes 3							78.0	77.0	78.0					20																	39832302		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832302C>T	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1255G>A	20.37:g.39832302C>T	ENSP00000312222:p.Glu419Lys					ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.E419K|ZHX3_uc002xjt.1_Missense_Mutation_p.E419K|ZHX3_uc002xju.1_Missense_Mutation_p.E419K|ZHX3_uc002xjv.1_Missense_Mutation_p.E419K|ZHX3_uc002xjw.1_Missense_Mutation_p.E419K|ZHX3_uc010ggg.1_Missense_Mutation_p.E419K	p.E419K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN			3	1633	-		Myeloproliferative disorder(115;0.00425)	419			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.1255G>A	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.40|19.40	3.820359|3.820359	0.71028|0.71028	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768|ENST00000421422	T;T;T;T;T|.	0.30448|.	1.53;2.95;2.95;2.73;1.53|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.074793|.	0.56097|.	D|.	0.000036|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.36672|0.36672	1.1|1.1	0.39847|0.39847	D|D	0.973188|0.973188	P;P;P|.	0.52692|.	0.804;0.902;0.955|.	P;P;P|.	0.45712|.	0.459;0.459;0.491|.	T|T	0.55127|0.55127	-0.8189|-0.8189	10|5	0.44086|.	T|.	0.13|.	-27.1961|-27.1961	15.6928|15.6928	0.77469|0.77469	0.0:0.8639:0.1361:0.0|0.0:0.8639:0.1361:0.0	.|.	419;419;419|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	K|K	419;419;419;419;197;419|127	ENSP00000312222:E419K;ENSP00000362360:E419K;ENSP00000442290:E419K;ENSP00000443783:E419K;ENSP00000415498:E419K|.	ENSP00000312222:E419K|.	E|R	-|-	1|2	0|0	ZHX3|ZHX3	39265716|39265716	0.997000|0.997000	0.39634|0.39634	0.991000|0.991000	0.47740|0.47740	0.967000|0.967000	0.64934|0.64934	4.026000|4.026000	0.57232|0.57232	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.582	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3		NM_015035		29	35	0	0	0	0.007291	0	29	35		
CYP24A1	1591	broad.mit.edu	37	20	52774035	52774035	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:52774035C>T	ENST00000216862.3	-	10	1719	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	CYP24A1_ENST00000395954.3_Silent_p.Q300Q|CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395955.3_Intron	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	442					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTTCCTTCTCCTGAAGCCAAC	0.428																																						uc002xwv.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(1324-1326)CAG>CAA		cytochrome P450 family 24 subfamily A	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						98.0	91.0	94.0					20																	52774035		2203	4300	6503	SO:0001819	synonymous_variant	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52774035C>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1326G>A	20.37:g.52774035C>T						CYP24A1_uc002xwu.1_Silent_p.Q300Q|CYP24A1_uc002xww.2_Intron	p.Q442Q	NM_000782	NP_000773	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		10	1724	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		442					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.1326G>A	CCDS33491.1																																																																																				0.428	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2				10	40	0	0	0	0.006214	0	10	40		
SYCP2	10388	broad.mit.edu	37	20	58450426	58450426	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:58450426C>G	ENST00000357552.3	-	34	3474	c.3249G>C	c.(3247-3249)tgG>tgC	p.W1083C	SYCP2_ENST00000371001.2_Missense_Mutation_p.W1083C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1083					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATGAGTTTTTCCATTGTTTTG	0.368																																						uc002yaz.2		NaN																	0				ovary(3)|lung(2)	5						c.(3247-3249)TGG>TGC		synaptonemal complex protein 2							124.0	109.0	114.0					20																	58450426		2203	4300	6503	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58450426C>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3249G>C	20.37:g.58450426C>G	ENSP00000350162:p.Trp1083Cys						p.W1083C	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		33	3388	-	all_lung(29;0.00344)		1083					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3249G>C	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	c	5.476	0.272803	0.10349	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.14144	2.53;2.53	5.56	3.61	0.41365	.	0.654516	0.14689	N	0.304291	T	0.14960	0.0361	L	0.40543	1.245	0.09310	N	1	D	0.57257	0.979	P	0.50192	0.634	T	0.10800	-1.0614	10	0.44086	T	0.13	5.1808	5.1222	0.14865	0.1484:0.6277:0.1436:0.0803	.	1083	Q9BX26	SYCP2_HUMAN	C	1083	ENSP00000360040:W1083C;ENSP00000350162:W1083C	ENSP00000350162:W1083C	W	-	3	0	SYCP2	57883821	0.001000	0.12720	0.006000	0.13384	0.017000	0.09413	0.606000	0.24194	1.363000	0.46019	-0.127000	0.14921	TGG		0.368	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3		NM_014258		12	15	0	0	0	0.010729	0	12	15		
DOPEY2	9980	broad.mit.edu	37	21	37603050	37603050	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:37603050C>T	ENST00000399151.3	+	14	2053	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	656					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCAAGTCCGAGGAGCCTG	0.542																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1966-1968)TCC>TCT		pad-1-like							60.0	59.0	60.0					21																	37603050		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37603050C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1968C>T	21.37:g.37603050C>T						DOPEY2_uc011aeb.1_Silent_p.S656S	p.S656S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			14	2047	+			656					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.1968C>T	CCDS13643.1																																																																																				0.542	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		41	46	0	0	0	0.006999	0	41	46		
HMGN1	3150	broad.mit.edu	37	21	40720485	40720485	+	Missense_Mutation	SNP	C	C	G	rs200500013	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:40720485C>G	ENST00000380749.5	-	2	316	c.34G>C	c.(34-36)Gcc>Ccc	p.A12P	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380747.1_Missense_Mutation_p.A28P|HMGN1_ENST00000361263.4_5'Flank|HMGN1_ENST00000380748.1_Missense_Mutation_p.A12P	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	12					chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TCCTTGGCGGCGCCTTCGGCG	0.677																																						uc002yxo.2		NaN																	0				breast(1)	1						c.(34-36)GCC>CCC		high-mobility group nucleosome binding domain 1							16.0	22.0	20.0					21																	40720485		2186	4279	6465	SO:0001583	missense	3150				positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding	g.chr21:40720485C>G		CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"""High-mobility group / Canonical"""	4984	protein-coding gene	gene with protein product	"""high-mobility group nucleosome binding 1"", ""nonhistone chromosomal protein HMG-14"""	163920	"""high-mobility group (nonhistone chromosomal) protein 14"", ""high-mobility group nucleosome binding domain 1"""	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.34G>C	21.37:g.40720485C>G	ENSP00000370125:p.Ala12Pro					HMGN1_uc002yxp.2_5'UTR|HMGN1_uc002yxq.2_5'UTR|HMGN1_uc002yxr.2_RNA	p.A12P	NM_004965	NP_004956	P05114	HMGN1_HUMAN			2	238	-		Prostate(19;8.69e-07)	12					Q3KQR8	Missense_Mutation	SNP	ENST00000380749.5	37	c.34G>C	CCDS33559.1	.	.	.	.	.	.	.	.	.	.	C	9.809	1.182541	0.21870	.	.	ENSG00000205581	ENST00000380749;ENST00000380748;ENST00000380747	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	T	0.62502	0.2433	L	0.50333	1.59	0.80722	D	1	P	0.46457	0.878	P	0.51266	0.664	T	0.66372	-0.5940	8	0.54805	T	0.06	.	14.9685	0.71213	0.0:1.0:0.0:0.0	.	12	P05114	HMGN1_HUMAN	P	12;12;28	.	ENSP00000288344:A12P	A	-	1	0	HMGN1	39642355	0.009000	0.17119	0.241000	0.24154	0.020000	0.10135	0.559000	0.23485	1.837000	0.53436	0.655000	0.94253	GCC		0.677	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141645.2		NM_004965		7	30	0	0	0	0.001984	0	7	30		
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																	uc002zda.1		NaN		Dom	yes		21	21q22.3	7307		U2 small nuclear RNA auxiliary factor 1			L					57	Substitution - Missense(57)		haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)		0						c.(100-102)TCT>TTT		U2 small nuclear RNA auxillary factor 1 isoform		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	p.S34F	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN			2	185	-			34			C3H1-type 1.		Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1		NM_006758		8	14	0	0	0	0.004482	0	8	14		
TRAPPC10	7109	broad.mit.edu	37	21	45507706	45507706	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:45507706C>G	ENST00000291574.4	+	17	2841	c.2666C>G	c.(2665-2667)cCa>cGa	p.P889R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	889					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCTTCAGCCCCAGCACTCGGA	0.552																																						uc002zea.2		NaN																	0				ovary(1)|skin(1)	2						c.(2665-2667)CCA>CGA		trafficking protein particle complex 10							99.0	85.0	90.0					21																	45507706		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45507706C>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2666C>G	21.37:g.45507706C>G	ENSP00000291574:p.Pro889Arg					TRAPPC10_uc010gpo.2_Missense_Mutation_p.P600R|TRAPPC10_uc011afa.1_Missense_Mutation_p.P267R|TRAPPC10_uc011afb.1_5'Flank	p.P889R	NM_003274	NP_003265	P48553	TPC10_HUMAN			17	2835	+			889					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.2666C>G	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165688	0.38217	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.23147	1.92	4.9	4.9	0.64082	.	0.144445	0.49305	D	0.000144	T	0.15305	0.0369	N	0.14661	0.345	0.33742	D	0.619564	P;P	0.39665	0.682;0.666	B;B	0.35413	0.185;0.202	T	0.21861	-1.0233	10	0.40728	T	0.16	.	13.7919	0.63146	0.0:0.8463:0.1537:0.0	.	148;889	B4DI17;P48553	.;TPC10_HUMAN	R	889;20	ENSP00000291574:P889R	ENSP00000291574:P889R	P	+	2	0	TRAPPC10	44332134	0.965000	0.33210	0.686000	0.30086	0.834000	0.47266	2.259000	0.43259	2.267000	0.75376	0.563000	0.77884	CCA		0.552	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		37	58	0	0	0	0.017118	0	37	58		
TRAPPC10	7109	broad.mit.edu	37	21	45518410	45518410	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:45518410A>T	ENST00000291574.4	+	21	3516	c.3341A>T	c.(3340-3342)tAt>tTt	p.Y1114F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1114					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AAGCTTATGTATGAAGGTAGG	0.512																																						uc002zea.2		NaN																	0				ovary(1)|skin(1)	2						c.(3340-3342)TAT>TTT		trafficking protein particle complex 10							87.0	88.0	88.0					21																	45518410		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45518410A>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3341A>T	21.37:g.45518410A>T	ENSP00000291574:p.Tyr1114Phe					TRAPPC10_uc010gpo.2_Missense_Mutation_p.Y825F|TRAPPC10_uc011afa.1_Missense_Mutation_p.Y492F|TRAPPC10_uc011afb.1_Missense_Mutation_p.Y219F	p.Y1114F	NM_003274	NP_003265	P48553	TPC10_HUMAN			21	3510	+			1114					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3341A>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	A	32	5.171430	0.94807	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.60797	0.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	L	0.43923	1.385	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.72975	-0.4128	10	0.87932	D	0	.	15.7457	0.77939	1.0:0.0:0.0:0.0	.	219;373;1114	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	F	1114;245	ENSP00000291574:Y1114F	ENSP00000291574:Y1114F	Y	+	2	0	TRAPPC10	44342838	1.000000	0.71417	0.976000	0.42696	0.926000	0.56050	8.406000	0.90216	2.175000	0.68902	0.460000	0.39030	TAT		0.512	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		38	56	0	0	0	0.005524	0	38	56		
UFD1L	7353	broad.mit.edu	37	22	19462610	19462610	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:19462610G>A	ENST00000263202.10	-	3	279	c.150C>T	c.(148-150)ccC>ccT	p.P50P	UFD1L_ENST00000360834.4_Intron|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Silent_p.P50P	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	50					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CCAGGGCCGAGGGTGGCATAA	0.373																																						uc002zpm.2		NaN																	0					0						c.(148-150)CCC>CCT		ubiquitin fusion degradation 1-like isoform A							86.0	82.0	83.0					22																	19462610		2203	4300	6503	SO:0001819	synonymous_variant	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19462610G>A	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.150C>T	22.37:g.19462610G>A						UFD1L_uc002zpo.2_Silent_p.P50P|UFD1L_uc011agy.1_Silent_p.P50P|UFD1L_uc002zpp.2_Silent_p.P3P|UFD1L_uc010grq.2_Silent_p.P3P|uc002zpq.1_5'Flank	p.P50P	NM_005659	NP_005650	Q92890	UFD1_HUMAN			3	280	-	Colorectal(54;0.0993)		50					A8MW31|Q9Y5N0	Silent	SNP	ENST00000263202.10	37	c.150C>T	CCDS13761.1																																																																																				0.373	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6				31	55	0	0	0	0.015359	0	31	55		
ARVCF	421	broad.mit.edu	37	22	19965031	19965031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:19965031G>A	ENST00000263207.3	-	9	2068	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	ARVCF_ENST00000406259.1_Nonsense_Mutation_p.Q593*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.Q530*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.Q530*|ARVCF_ENST00000401994.1_Nonsense_Mutation_p.Q530*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	593					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCGGCCTCCTGGTACCTGTCG	0.662																																						uc002zqz.2		NaN																	0				liver(1)	1						c.(1777-1779)CAG>TAG		armadillo repeat protein							51.0	58.0	56.0					22																	19965031		2203	4300	6503	SO:0001587	stop_gained	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19965031G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1777C>T	22.37:g.19965031G>A	ENSP00000263207:p.Gln593*					ARVCF_uc002zqy.2_Nonsense_Mutation_p.Q115*	p.Q593*	NM_001670	NP_001661	O00192	ARVC_HUMAN			9	2048	-	Colorectal(54;0.0993)		593			ARM 6.		B7WNV2	Nonsense_Mutation	SNP	ENST00000263207.3	37	c.1777C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	41	8.579430	0.98870	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	.	.	.	4.05	4.05	0.47172	.	0.119627	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.7924	17.1156	0.86688	0.0:0.0:1.0:0.0	.	.	.	.	X	593;530;530;530;593	.	.	Q	-	1	0	ARVCF	18345031	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.400000	0.66320	2.549000	0.85964	0.563000	0.77884	CAG		0.662	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5		NM_001670		58	89	0	0	0	0.01441	0	58	89		
JOSD1	9929	broad.mit.edu	37	22	39095872	39095872	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:39095872G>T	ENST00000216039.5	-	1	800	c.121C>A	c.(121-123)Ctc>Atc	p.L41I	JOSD1_ENST00000462610.1_5'Flank	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	41	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					ACGTTATTGAGGGCGTGGAGG	0.537																																						uc003awf.2		NaN																	0					0						c.(121-123)CTC>ATC		Josephin domain containing 1							160.0	154.0	156.0					22																	39095872		2203	4300	6503	SO:0001583	missense	9929						peptidase activity	g.chr22:39095872G>T		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.121C>A	22.37:g.39095872G>T	ENSP00000216039:p.Leu41Ile						p.L41I	NM_014876	NP_055691	Q15040	JOS1_HUMAN			1	588	-	Melanoma(58;0.04)		41			Josephin.		A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	c.121C>A	CCDS13976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.777964|4.777964	0.90195|0.90195	.|.	.|.	ENSG00000100221|ENSG00000100221	ENST00000216039;ENST00000427389;ENST00000412832;ENST00000417712;ENST00000456626|ENST00000545590	T;T;T;T;T|.	0.59364|.	0.27;0.27;0.27;0.27;0.27|.	5.57|5.57	4.54|4.54	0.55810|0.55810	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71609|0.71609	0.3360|0.3360	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	D|.	0.53312|.	0.959|.	P|.	0.46389|.	0.515|.	T|T	0.71909|0.71909	-0.4450|-0.4450	10|5	0.56958|.	D|.	0.05|.	.|.	9.8694|9.8694	0.41164|0.41164	0.0722:0.1405:0.7873:0.0|0.0722:0.1405:0.7873:0.0	.|.	41|.	Q15040|.	JOS1_HUMAN|.	I|H	41|35	ENSP00000216039:L41I;ENSP00000410010:L41I;ENSP00000415189:L41I;ENSP00000393131:L41I;ENSP00000405182:L41I|.	ENSP00000216039:L41I|.	L|P	-|-	1|2	0|0	JOSD1|JOSD1	37425818|37425818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.005000|8.005000	0.88553|0.88553	1.325000|1.325000	0.45301|0.45301	0.563000|0.563000	0.77884|0.77884	CTC|CCT		0.537	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1		NM_014876		5	195	1	0	0.000602214	0.014758	0.000654258	5	195		
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:41565529G>T	ENST00000263253.7	+	26	5414	c.4195G>T	c.(4195-4197)Gat>Tat	p.D1399Y	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		7	Substitution - Missense(7)	p.D1399Y(1)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4195-4197)GAT>TAT		E1A binding protein p300							98.0	93.0	95.0					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565529G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>T	22.37:g.41565529G>T	ENSP00000263253:p.Asp1399Tyr						p.D1399Y	NM_001429	NP_001420	Q09472	EP300_HUMAN			26	4590	+			1399	D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2.				B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4195G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273992	0.80580	.	.	ENSG00000100393	ENST00000263253	D	0.99436	-5.9	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	Y	1399	ENSP00000263253:D1399Y	ENSP00000263253:D1399Y	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		30	55	1	0	1.08312e-15	0.009535	1.25085e-15	30	55		
L3MBTL2	83746	broad.mit.edu	37	22	41615486	41615486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:41615486G>A	ENST00000216237.5	+	6	822	c.664G>A	c.(664-666)Gat>Aat	p.D222N	RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	222					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTCAACAGTGATGCTGTGCT	0.572																																						uc003azo.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(664-666)GAT>AAT		l(3)mbt-like 2							221.0	146.0	171.0					22																	41615486		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41615486G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.664G>A	22.37:g.41615486G>A	ENSP00000216237:p.Asp222Asn					L3MBTL2_uc010gyi.1_Missense_Mutation_p.D131N|L3MBTL2_uc003azn.2_RNA|uc003azp.1_5'Flank	p.D222N	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN			6	718	+			222			MBT 1.		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.664G>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094375	0.76870	.	.	ENSG00000100395	ENST00000216237	T	0.28895	1.59	4.98	4.98	0.66077	.	0.215910	0.50627	D	0.000117	T	0.46483	0.1395	L	0.39514	1.22	0.49389	D	0.99978	B;D	0.54207	0.183;0.965	B;D	0.63381	0.069;0.914	T	0.26643	-1.0097	10	0.44086	T	0.13	.	19.1358	0.93428	0.0:0.0:1.0:0.0	.	222;222	Q969R5-3;Q969R5	.;LMBL2_HUMAN	N	222	ENSP00000216237:D222N	ENSP00000216237:D222N	D	+	1	0	L3MBTL2	39945432	1.000000	0.71417	0.486000	0.27416	0.637000	0.38172	5.068000	0.64364	2.699000	0.92147	0.655000	0.94253	GAT		0.572	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1		NM_031488		39	53	0	0	0	0.009718	0	39	53		
MEI1	150365	broad.mit.edu	37	22	42172208	42172208	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:42172208C>G	ENST00000401548.3	+	21	2687	c.2647C>G	c.(2647-2649)Cga>Gga	p.R883G	MEI1_ENST00000540880.1_Missense_Mutation_p.R201G|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.R251G	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGTCTTATCCGAGGCCACTT	0.562																																						uc003baz.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2647-2649)CGA>GGA		meiosis defective 1							85.0	84.0	84.0					22																	42172208		2044	4206	6250	SO:0001583	missense	150365						binding	g.chr22:42172208C>G	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2647C>G	22.37:g.42172208C>G	ENSP00000384115:p.Arg883Gly					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.R269G|MEI1_uc003bbc.1_Missense_Mutation_p.R251G|MEI1_uc010gym.1_Missense_Mutation_p.R251G|MEI1_uc003bbd.1_Missense_Mutation_p.R126G|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA	p.R883G	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			21	2672	+			883						Missense_Mutation	SNP	ENST00000401548.3	37	c.2647C>G	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738715	0.49045	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000540880	T;T;T	0.76316	-1.01;-0.13;1.45	5.8	4.79	0.61399	.	0.351541	0.29868	N	0.010994	D	0.82379	0.5024	L	0.56769	1.78	0.80722	D	1	D;P;D;D	0.89917	1.0;0.761;0.979;0.979	D;B;P;P	0.73380	0.98;0.437;0.668;0.535	T	0.80504	-0.1353	10	0.40728	T	0.16	-8.9265	6.8279	0.23893	0.1757:0.738:0.0:0.0864	.	251;126;251;883	Q5TIA1-3;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;MEI1_HUMAN	G	883;251;201	ENSP00000384115:R883G;ENSP00000382978:R251G;ENSP00000437436:R201G	ENSP00000382978:R251G	R	+	1	2	MEI1	40502154	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.899000	0.48679	2.741000	0.93983	0.650000	0.86243	CGA		0.562	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3		NM_152513		41	63	0	0	0	0.00874	0	41	63		
ITPR1	3708	broad.mit.edu	37	3	4709127	4709127	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:4709127A>T	ENST00000443694.2	+	15	1735	c.1735A>T	c.(1735-1737)Act>Tct	p.T579S	ITPR1_ENST00000456211.2_Missense_Mutation_p.T579S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.T594S|ITPR1_ENST00000423119.2_Missense_Mutation_p.T594S|ITPR1_ENST00000354582.6_Missense_Mutation_p.T594S|ITPR1_ENST00000302640.8_Missense_Mutation_p.T579S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	594					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGCTGAAGACACTATCACTGC	0.458																																						uc003bqa.2		NaN																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(1780-1782)ACT>TCT		inositol 1,4,5-triphosphate receptor, type 1							64.0	60.0	61.0					3																	4709127		1940	4172	6112	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4709127A>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1735A>T	3.37:g.4709127A>T	ENSP00000401671:p.Thr579Ser					ITPR1_uc010hca.1_Missense_Mutation_p.T579S|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.T579S	p.T594S	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	18	2128	+			594			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.1780A>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693436	0.88735	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06	4.6	4.6	0.57074	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.98378	0.9461	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.997	D	0.98897	1.0775	10	0.48119	T	0.1	.	14.167	0.65483	1.0:0.0:0.0:0.0	.	579;594;594	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	S	594;579;594;594;594;579;579	ENSP00000306253:T579S;ENSP00000346595:T594S;ENSP00000405934:T594S;ENSP00000349597:T594S;ENSP00000397885:T579S;ENSP00000401671:T579S	ENSP00000306253:T579S	T	+	1	0	ITPR1	4684127	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.049000	0.93837	1.930000	0.55929	0.454000	0.30748	ACT		0.458	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		NM_002222		43	15	0	0	0	0.007835	0	43	15		
NUP210	23225	broad.mit.edu	37	3	13363766	13363766	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:13363766C>T	ENST00000254508.5	-	35	4924	c.4842G>A	c.(4840-4842)caG>caA	p.Q1614Q		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1614					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCGGCTTGAACTGGGACTGGC	0.557																																						uc003bxv.1		NaN																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(4840-4842)CAG>CAA		nucleoporin 210 precursor							117.0	119.0	118.0					3																	13363766		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13363766C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4842G>A	3.37:g.13363766C>T							p.Q1614Q	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			35	4925	-	all_neural(104;0.187)		1614			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.4842G>A	CCDS33704.1																																																																																				0.557	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		153	99	0	0	0	0.01441	0	153	99		
NEK10	152110	broad.mit.edu	37	3	27326126	27326126	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:27326126T>C	ENST00000429845.2	-	23	2343	c.1981A>G	c.(1981-1983)Att>Gtt	p.I661V	NEK10_ENST00000341435.5_Missense_Mutation_p.I661V|NEK10_ENST00000357467.2_Missense_Mutation_p.I58V			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	661	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCCAACATAATGTTGTTTGGT	0.338																																						uc003cdt.1		NaN																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(1981-1983)ATT>GTT		NIMA-related kinase 10 isoform 3							151.0	141.0	145.0					3																	27326126		2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27326126T>C	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1981A>G	3.37:g.27326126T>C	ENSP00000395849:p.Ile661Val					NEK10_uc003cds.1_Missense_Mutation_p.I58V	p.I661V	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			23	2255	-			661			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1981A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.3|22.3	4.267612|4.267612	0.80469|0.80469	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000357467;ENST00000341435;ENST00000396636	.|T;T	.|0.52754	.|0.65;0.65	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.099632	.|0.64402	.|D	.|0.000004	T|T	0.42765|0.42765	0.1217|0.1217	N|N	0.05487|0.05487	-0.04|-0.04	0.41319|0.41319	D|D	0.987169|0.987169	.|D;P	.|0.54047	.|0.964;0.937	.|P;P	.|0.57152	.|0.794;0.814	T|T	0.49643|0.49643	-0.8918|-0.8918	5|10	.|0.48119	.|T	.|0.1	.|.	12.3164|12.3164	0.54960|0.54960	0.0:0.0671:0.0:0.9329|0.0:0.0671:0.0:0.9329	.|.	.|661;58	.|Q6ZWH5;Q8N774	.|NEK10_HUMAN;.	R|V	117|58;661;661	.|ENSP00000350059:I58V;ENSP00000343847:I661V	.|ENSP00000343847:I661V	H|I	-|-	2|1	0|0	NEK10|NEK10	27301130|27301130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.961000|1.961000	0.40432|0.40432	2.304000|2.304000	0.77564|0.77564	0.528000|0.528000	0.53228|0.53228	CAT|ATT		0.338	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1		NM_152534		39	55	0	0	0	0.013114	0	39	55		
TRANK1	9881	broad.mit.edu	37	3	36898029	36898029	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:36898029T>C	ENST00000429976.2	-	12	3299	c.3052A>G	c.(3052-3054)Atc>Gtc	p.I1018V	TRANK1_ENST00000301807.6_Missense_Mutation_p.I468V|TRANK1_ENST00000428977.2_Missense_Mutation_p.I468V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1018							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAGGTCGATCACCGCGTAC	0.537																																						uc003cgj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1402-1404)ATC>GTC		lupus brain antigen 1							138.0	141.0	140.0					3																	36898029		2061	4176	6237	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898029T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3052A>G	3.37:g.36898029T>C	ENSP00000416168:p.Ile1018Val						p.I468V	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	1704	-			1018					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.1402A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812161	0.32053	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35789	1.29;1.29;1.29	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000007	T	0.51991	0.1707	L	0.48362	1.52	0.45129	D	0.998142	D	0.64830	0.994	D	0.76071	0.987	T	0.42050	-0.9474	10	0.27082	T	0.32	.	15.5687	0.76317	0.0:0.0:0.0:1.0	.	1018	O15050	TRNK1_HUMAN	V	468;1018;468	ENSP00000416826:I468V;ENSP00000416168:I1018V;ENSP00000301807:I468V	ENSP00000301807:I468V	I	-	1	0	TRANK1	36873033	1.000000	0.71417	0.966000	0.40874	0.273000	0.26683	6.143000	0.71756	2.151000	0.67156	0.459000	0.35465	ATC		0.537	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831		97	89	0	0	0	0.01441	0	97	89		
XYLB	9942	broad.mit.edu	37	3	38442474	38442474	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:38442474C>A	ENST00000207870.3	+	18	1621	c.1531C>A	c.(1531-1533)Cag>Aag	p.Q511K	XYLB_ENST00000542835.1_Missense_Mutation_p.Q374K|XYLB_ENST00000472721.1_3'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	511					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGGAGCTTCTCAGGTGAGAGA	0.493																																						uc003cic.2		NaN																	0				ovary(1)	1						c.(1531-1533)CAG>AAG		xylulokinase							111.0	106.0	108.0					3																	38442474		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38442474C>A	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.1531C>A	3.37:g.38442474C>A	ENSP00000207870:p.Gln511Lys					XYLB_uc011ayp.1_Missense_Mutation_p.Q374K|XYLB_uc003cid.1_Missense_Mutation_p.Q433K	p.Q511K	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	18	1640	+			511					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.1531C>A	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244244	0.39697	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.39787	1.06;1.06	5.5	5.5	0.81552	.	0.145078	0.47093	D	0.000244	T	0.29524	0.0736	L	0.27053	0.805	0.39507	D	0.968292	B;B	0.13145	0.001;0.007	B;B	0.09377	0.002;0.004	T	0.09885	-1.0654	10	0.13108	T	0.6	.	14.7704	0.69671	0.0:1.0:0.0:0.0	.	374;511	B4DDT2;O75191	.;XYLB_HUMAN	K	511;374	ENSP00000207870:Q511K;ENSP00000443659:Q374K	ENSP00000207870:Q511K	Q	+	1	0	XYLB	38417478	0.993000	0.37304	0.999000	0.59377	0.968000	0.65278	1.443000	0.35057	2.861000	0.98227	0.655000	0.94253	CAG		0.493	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2		NM_005108		37	54	1	0	6.70999e-13	0.019004	7.66855e-13	37	54		
ANO10	55129	broad.mit.edu	37	3	43408465	43408465	+	Splice_Site	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:43408465T>G	ENST00000292246.3	-	13	2086	c.1916A>C	c.(1915-1917)cAa>cCa	p.Q639P	ANO10_ENST00000414522.2_3'UTR|ANO10_ENST00000451430.2_Splice_Site_p.Q528P|ANO10_ENST00000396091.3_Splice_Site_p.Q573P|ANO10_ENST00000350459.4_Splice_Site_p.Q449P	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	639					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GAGCTTCATTTGCTGTTAAGA	0.577																																						uc003cmv.2		NaN																	0				ovary(2)	2						c.(1915-1917)CAA>CCA		transmembrane protein 16K							104.0	71.0	82.0					3																	43408465		2203	4299	6502	SO:0001630	splice_region_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43408465T>G	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1915-1A>C	3.37:g.43408465T>G						ANO10_uc011azs.1_3'UTR|ANO10_uc003cmw.2_Missense_Mutation_p.Q573P|ANO10_uc010hil.2_Missense_Mutation_p.Q449P|ANO10_uc011azt.1_Missense_Mutation_p.Q528P	p.Q639P	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN			13	2087	-			639			Cytoplasmic (Potential).		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.1916A>C	CCDS2710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.478|8.478	0.859204|0.859204	0.17178|0.17178	.|.	.|.	ENSG00000160746|ENSG00000160746	ENST00000448045|ENST00000292246;ENST00000350459;ENST00000396091;ENST00000451430	.|T;T;T;T	.|0.71222	.|0.2;-0.55;0.21;0.04	3.65|3.65	3.65|3.65	0.41850|0.41850	.|.	.|0.821783	.|0.10312	.|U	.|0.689817	T|T	0.49457|0.49457	0.1558|0.1558	N|N	0.08118|0.08118	0|0	0.32481|0.32481	N|N	0.541425|0.541425	.|P;P;B;B	.|0.49253	.|0.467;0.921;0.34;0.022	.|B;B;B;B	.|0.40477	.|0.134;0.33;0.093;0.016	T|T	0.55186|0.55186	-0.8180|-0.8180	5|10	.|0.42905	.|T	.|0.14	.|.	8.961|8.961	0.35847|0.35847	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|528;449;573;639	.|Q9NW15-4;Q9NW15-2;Q9NW15-3;Q9NW15	.|.;.;.;ANO10_HUMAN	Q|P	167|639;449;573;528	.|ENSP00000292246:Q639P;ENSP00000327767:Q449P;ENSP00000379398:Q573P;ENSP00000394119:Q528P	.|ENSP00000292246:Q639P	K|Q	-|-	1|2	0|0	ANO10|ANO10	43383469|43383469	0.991000|0.991000	0.36638|0.36638	0.957000|0.957000	0.39632|0.39632	0.178000|0.178000	0.23041|0.23041	3.029000|3.029000	0.49712|0.49712	1.871000|1.871000	0.54225|0.54225	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.577	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2		NM_018075	Missense_Mutation	4	13	0	0	0	0.014758	0	4	13		
SETD2	29072	broad.mit.edu	37	3	47162291	47162291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:47162291C>T	ENST00000409792.3	-	3	3877	c.3835G>A	c.(3835-3837)Gga>Aga	p.G1279R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1279					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCACAAGCTCCATAGCTACTG	0.473			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NaN		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(3835-3837)GGA>AGA		SET domain containing 2							112.0	104.0	107.0					3																	47162291		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162291C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3835G>A	3.37:g.47162291C>T	ENSP00000386759:p.Gly1279Arg					SETD2_uc003cqv.2_Missense_Mutation_p.G1268R	p.G1279R	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	3888	-		Acute lymphoblastic leukemia(5;0.0169)	1279					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.3835G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607464	0.66558	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90563	-2.69;1.01	5.28	5.28	0.74379	.	0.000000	0.56097	D	0.000021	D	0.87997	0.6319	L	0.27053	0.805	0.50171	D	0.999852	D;D	0.53312	0.959;0.959	P;P	0.46076	0.503;0.503	D	0.89783	0.3962	10	0.87932	D	0	.	19.1111	0.93317	0.0:1.0:0.0:0.0	.	1279;1279	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1279;1279;1279;1235	ENSP00000386759:G1279R;ENSP00000416401:G1235R	ENSP00000386759:G1279R	G	-	1	0	SETD2	47137295	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.089000	0.64492	2.756000	0.94617	0.655000	0.94253	GGA		0.473	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159		24	50	0	0	0	0.004656	0	24	50		
PLXNB1	5364	broad.mit.edu	37	3	48463746	48463746	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:48463746C>T	ENST00000358536.4	-	5	1682	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q	PLXNB1_ENST00000358459.4_Silent_p.Q471Q|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Silent_p.Q471Q|PLXNB1_ENST00000296440.6_Silent_p.Q471Q	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	471	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACTGTGCTCTGGGTCATGA	0.597																																						uc003csw.2		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1411-1413)CAG>CAA		plexin B1 precursor							36.0	33.0	34.0					3																	48463746		2203	4300	6503	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48463746C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1413G>A	3.37:g.48463746C>T						PLXNB1_uc003csu.2_Silent_p.Q471Q|PLXNB1_uc003csx.2_Silent_p.Q471Q|PLXNB1_uc010hjx.1_RNA	p.Q471Q	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	5	1683	-			471			Extracellular (Potential).|Sema.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.1413G>A	CCDS2765.1																																																																																				0.597	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1		NM_002673		5	17	0	0	0	0.001168	0	5	17		
BSN	8927	broad.mit.edu	37	3	49694316	49694316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:49694316G>A	ENST00000296452.4	+	5	7441	c.7327G>A	c.(7327-7329)Gaa>Aaa	p.E2443K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2443					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACTGCAGCGGGAACAGCTAGC	0.622																																						uc003cxe.3		NaN																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(7327-7329)GAA>AAA		bassoon protein							16.0	18.0	18.0					3																	49694316		2200	4297	6497	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694316G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7327G>A	3.37:g.49694316G>A	ENSP00000296452:p.Glu2443Lys						p.E2443K	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	7441	+			2443			Potential.		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7327G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775597	0.49786	.	.	ENSG00000164061	ENST00000296452	T	0.22336	1.96	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.43376	-0.9395	10	0.87932	D	0	-15.5921	20.177	0.98182	0.0:0.0:1.0:0.0	.	2443	Q9UPA5	BSN_HUMAN	K	2443	ENSP00000296452:E2443K	ENSP00000296452:E2443K	E	+	1	0	BSN	49669320	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.840000	0.99478	2.854000	0.98071	0.655000	0.94253	GAA		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458		8	5	0	0	0	0.00308	0	8	5		
ZMYND10	51364	broad.mit.edu	37	3	50379288	50379288	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:50379288C>T	ENST00000231749.3	-	10	2346	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Silent_p.Q353Q|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000490675.1_5'UTR|RASSF1_ENST00000357043.2_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	358					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGAACACATGCTGGAGCTGGT	0.597										TSP Lung(30;0.18)																												uc003dag.1		NaN																	0				lung(4)|ovary(1)	5						c.(1072-1074)CAG>CAA		zinc finger, MYND domain-containing 10							51.0	51.0	51.0					3																	50379288		2203	4300	6503	SO:0001819	synonymous_variant	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50379288C>T	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1074G>A	3.37:g.50379288C>T		TSP Lung(30;0.18)				RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.Q353Q|ZMYND10_uc003dah.1_Silent_p.Q279Q	p.Q358Q	NM_015896	NP_056980	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	10	1220	-			358					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	ENST00000231749.3	37	c.1074G>A	CCDS2825.1																																																																																				0.597	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1		NM_015896		36	32	0	0	0	0.017118	0	36	32		
DNAH1	25981	broad.mit.edu	37	3	52404221	52404221	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:52404221C>T	ENST00000420323.2	+	39	6495	c.6234C>T	c.(6232-6234)ttC>ttT	p.F2078F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2078					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACTGCTTCTTCAAGCCCT	0.572																																						uc011bef.1		NaN																	0				large_intestine(3)	3						c.(6232-6234)TTC>TTT		dynein, axonemal, heavy chain 1							73.0	79.0	77.0					3																	52404221		2130	4250	6380	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52404221C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6234C>T	3.37:g.52404221C>T							p.F2078F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	39	6495	+			2078					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.6234C>T	CCDS46842.1																																																																																				0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512		14	27	0	0	0	0.020292	0	14	27		
FAM208A	23272	broad.mit.edu	37	3	56659005	56659005	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:56659005G>C	ENST00000493960.2	-	22	4179	c.4169C>G	c.(4168-4170)aCg>aGg	p.T1390R	FAM208A_ENST00000485156.1_Intron|FAM208A_ENST00000355628.5_Missense_Mutation_p.T1329R|FAM208A_ENST00000431842.2_Missense_Mutation_p.T953R	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1390							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						ATTCAGAAGCGTCAACAGACT	0.348																																						uc003did.3		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3985-3987)ACG>AGG		retinoblastoma-associated protein 140 isoform b							77.0	78.0	78.0					3																	56659005		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56659005G>C	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.4169C>G	3.37:g.56659005G>C	ENSP00000417509:p.Thr1390Arg					C3orf63_uc003dib.3_Missense_Mutation_p.T448R|C3orf63_uc003dic.3_Missense_Mutation_p.T953R|C3orf63_uc003die.3_Missense_Mutation_p.T1390R	p.T1329R	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	21	4087	-			1390					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.3986C>G	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285669	0.80803	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.51071	0.72;0.72;0.72	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.64494	0.2603	L	0.51422	1.61	0.47037	D	0.999294	D;P;D;D	0.64830	0.993;0.757;0.977;0.994	D;P;P;P	0.65987	0.94;0.664;0.776;0.879	T	0.65569	-0.6136	10	0.72032	D	0.01	-7.1411	19.4883	0.95039	0.0:0.0:1.0:0.0	.	1390;1329;953;1390	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	R	953;1390;1329	ENSP00000399410:T953R;ENSP00000417509:T1390R;ENSP00000347845:T1329R	ENSP00000347845:T1329R	T	-	2	0	C3orf63	56634045	1.000000	0.71417	0.947000	0.38551	0.963000	0.63663	4.058000	0.57463	2.608000	0.88229	0.655000	0.94253	ACG		0.348	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2		NM_015224		6	60	0	0	0	0.00308	0	6	60		
DNASE1L3	1776	broad.mit.edu	37	3	58178462	58178462	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:58178462G>A	ENST00000394549.2	-	8	1186	c.870C>T	c.(868-870)agC>agT	p.S290S	DNASE1L3_ENST00000318316.3_Silent_p.S290S|DNASE1L3_ENST00000483681.1_3'UTR|DNASE1L3_ENST00000486455.1_Silent_p.S260S	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	290					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CAGATTTTTTGCTGTTGGTGA	0.423																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	uc003djo.1		NaN																	0				breast(2)|large_intestine(1)	3						c.(868-870)AGC>AGT		deoxyribonuclease I-like 3 precursor							144.0	145.0	145.0					3																	58178462		2203	4300	6503	SO:0001819	synonymous_variant	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58178462G>A	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.870C>T	3.37:g.58178462G>A						DNASE1L3_uc011bfd.1_Silent_p.S260S|DNASE1L3_uc003djp.1_Silent_p.S290S|DNASE1L3_uc003djq.1_3'UTR	p.S290S	NM_004944	NP_004935	Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	8	967	-			290					B2R8B1|B7Z707|O75803	Silent	SNP	ENST00000394549.2	37	c.870C>T	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	G	7.924	0.739149	0.15642	.	.	ENSG00000163687	ENST00000477209	T	0.57273	0.41	4.89	2.91	0.33838	.	.	.	.	.	T	0.40862	0.1134	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24905	-1.0147	6	0.23302	T	0.38	.	8.2415	0.31662	0.0924:0.325:0.5826:0.0	.	.	.	.	V	132	ENSP00000417976:A132V	ENSP00000417976:A132V	A	-	2	0	DNASE1L3	58153502	0.003000	0.15002	0.843000	0.33291	0.556000	0.35491	0.567000	0.23608	1.259000	0.44117	0.650000	0.86243	GCA		0.423	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1		NM_004944		30	82	0	0	0	0.008361	0	30	82		
CRYBG3	131544	broad.mit.edu	37	3	97661173	97661173	+	Missense_Mutation	SNP	G	G	A	rs369925348		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:97661173G>A	ENST00000182096.4	+	18	2930	c.2866G>A	c.(2866-2868)Gga>Aga	p.G956R	CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.G163R	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2904							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GGACACACCTGGAGCTAAAGT	0.413																																						uc003drx.2		NaN																	0					0						c.(2866-2868)GGA>AGA		beta-gamma crystallin domain containing 3		G	,,,ARG/GLY	0,3874		0,0,1937	127.0	123.0	124.0		,,,8710	5.3	1.0	3		124	2,8272		0,2,4135	no	utr-3,utr-3,utr-3,missense	MINA,CRYBG3	NM_001042533.1,NM_032778.4,NM_153182.2,XM_003118522.2	,,,125	0,2,6072	AA,AG,GG		0.0242,0.0,0.0165	,,,probably-damaging	,,,2904/2971	97661173	2,12146	1937	4137	6074	SO:0001583	missense	131544							g.chr3:97661173G>A			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2866G>A	3.37:g.97661173G>A	ENSP00000182096:p.Gly956Arg					CRYBG3_uc010hoz.1_RNA|MINA_uc003dry.1_3'UTR|MINA_uc003drz.1_3'UTR|MINA_uc003dsa.1_3'UTR|MINA_uc003dsb.1_3'UTR|MINA_uc003dsc.1_3'UTR	p.G956R	NM_153605	NP_705833					18	2930	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.2866G>A		.	.	.	.	.	.	.	.	.	.	G	25.4	4.631861	0.87660	0.0	2.42E-4	ENSG00000080200	ENST00000182096;ENST00000389622	T;T	0.58060	0.36;0.36	5.34	5.34	0.76211	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.64402	D	0.000005	T	0.76414	0.3984	M	0.82323	2.585	0.53688	D	0.999976	D	0.89917	1.0	D	0.87578	0.998	T	0.79692	-0.1697	10	0.87932	D	0	.	19.4025	0.94635	0.0:0.0:1.0:0.0	.	956	Q68DQ2	CRBG3_HUMAN	R	956;163	ENSP00000182096:G956R;ENSP00000374273:G163R	ENSP00000182096:G956R	G	+	1	0	CRYBG3	99143863	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.153000	0.71819	2.649000	0.89929	0.591000	0.81541	GGA		0.413	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1		NM_153605		20	48	0	0	0	0.008871	0	20	48		
NXPE3	91775	broad.mit.edu	37	3	101540311	101540311	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:101540311A>G	ENST00000491511.2	+	8	2149	c.1193A>G	c.(1192-1194)aAg>aGg	p.K398R	NXPE3_ENST00000273347.5_Missense_Mutation_p.K398R|NXPE3_ENST00000477909.1_Missense_Mutation_p.K398R|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000422132.1_Missense_Mutation_p.K398R	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	398						extracellular region (GO:0005576)											GTGGACCAGAAGCACAACATC	0.468																																						uc003dvn.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1192-1194)AAG>AGG		hypothetical protein LOC91775 precursor							120.0	98.0	105.0					3																	101540311		2203	4300	6503	SO:0001583	missense	91775					extracellular region		g.chr3:101540311A>G	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1193A>G	3.37:g.101540311A>G	ENSP00000417485:p.Lys398Arg					FAM55C_uc010hpn.2_Missense_Mutation_p.K398R	p.K398R	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			8	1830	+			398					A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.1193A>G	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390009	0.61956	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.83	4.65	0.58169	.	0.232098	0.50627	D	0.000117	T	0.16085	0.0387	L	0.46614	1.455	0.34847	D	0.741315	P	0.45902	0.868	B	0.39660	0.306	T	0.21314	-1.0249	10	0.27082	T	0.32	-20.3405	13.1264	0.59358	0.8663:0.1337:0.0:0.0	.	398	Q969Y0	FA55C_HUMAN	R	398	ENSP00000273347:K398R;ENSP00000417485:K398R;ENSP00000418369:K398R;ENSP00000396421:K398R	ENSP00000273347:K398R	K	+	2	0	FAM55C	103023001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.661000	0.61518	1.009000	0.39289	0.533000	0.62120	AAG		0.468	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2		NM_145037		12	24	0	0	0	0.010729	0	12	24		
DZIP3	9666	broad.mit.edu	37	3	108343354	108343354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:108343354G>A	ENST00000361582.3	+	6	669	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	DZIP3_ENST00000463306.1_Missense_Mutation_p.E147K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	147					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGCACTCACTGAAAGAGGAAA	0.279																																						uc003dxd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(439-441)GAA>AAA		DAZ interacting protein 3, zinc finger							87.0	89.0	88.0					3																	108343354		2201	4273	6474	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108343354G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.439G>A	3.37:g.108343354G>A	ENSP00000355028:p.Glu147Lys					DZIP3_uc003dxf.1_Missense_Mutation_p.E147K|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.E147K	p.E147K	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			6	861	+			147					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.439G>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976656	0.34848	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000486815;ENST00000479138;ENST00000463306	T;T	0.19938	2.11;2.11	4.82	4.82	0.62117	.	0.000000	0.53938	D	0.000055	T	0.14657	0.0354	N	0.24115	0.695	0.29397	N	0.862183	B	0.23591	0.088	B	0.17979	0.02	T	0.06267	-1.0836	10	0.33940	T	0.23	-9.2524	13.3448	0.60566	0.0:0.0:1.0:0.0	.	147	Q86Y13	DZIP3_HUMAN	K	147;147;63;147;147	ENSP00000355028:E147K;ENSP00000419981:E147K	ENSP00000355028:E147K	E	+	1	0	DZIP3	109826044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.068000	0.57534	2.515000	0.84797	0.650000	0.86243	GAA		0.279	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1		NM_014648		12	33	0	0	0	0.013537	0	12	33		
GOLGB1	2804	broad.mit.edu	37	3	121413222	121413222	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:121413222G>A	ENST00000340645.5	-	13	6258	c.6133C>T	c.(6133-6135)Cta>Tta	p.L2045L	GOLGB1_ENST00000393667.3_Silent_p.L2050L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2045					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACAAATTCTAGAGCTTTAACA	0.373																																						uc003eei.3		NaN																	0				ovary(6)|breast(2)|skin(2)	10						c.(6133-6135)CTA>TTA		golgi autoantigen, golgin subfamily b,							101.0	102.0	102.0					3																	121413222		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413222G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6133C>T	3.37:g.121413222G>A						GOLGB1_uc010hrc.2_Silent_p.L2050L|GOLGB1_uc003eej.3_Silent_p.L2011L|GOLGB1_uc011bjm.1_Silent_p.L1931L|GOLGB1_uc010hrd.1_Silent_p.L2009L	p.L2045L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	6259	-			2045			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.6133C>T	CCDS3004.1																																																																																				0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		56	24	0	0	0	0.01441	0	56	24		
PDIA5	10954	broad.mit.edu	37	3	122865069	122865069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:122865069C>T	ENST00000316218.7	+	13	1200	c.1105C>T	c.(1105-1107)Ctc>Ttc	p.L369F	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	369	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGTGCCTGTGCTCAGGACAAA	0.483																																						uc003egc.1		NaN																	0				ovary(1)	1						c.(1105-1107)CTC>TTC		protein disulfide isomerase A5 precursor							118.0	121.0	120.0					3																	122865069		2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122865069C>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1105C>T	3.37:g.122865069C>T	ENSP00000323313:p.Leu369Phe					PDIA5_uc003egd.1_RNA	p.L369F	NM_006810	NP_006801	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	13	1161	+			369			Thioredoxin 2.		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.1105C>T	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101517	0.76983	.	.	ENSG00000065485	ENST00000316218	T	0.03358	3.96	5.33	5.33	0.75918	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.254751	0.40064	N	0.001188	T	0.07234	0.0183	N	0.11870	0.19	0.58432	D	0.999996	D	0.76494	0.999	D	0.74674	0.984	T	0.46775	-0.9167	10	0.51188	T	0.08	.	11.9791	0.53109	0.0:0.9198:0.0:0.0802	.	369	Q14554	PDIA5_HUMAN	F	369	ENSP00000323313:L369F	ENSP00000323313:L369F	L	+	1	0	PDIA5	124347759	1.000000	0.71417	0.994000	0.49952	0.875000	0.50365	5.277000	0.65586	2.644000	0.89710	0.655000	0.94253	CTC		0.483	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1		NM_006810		12	75	0	0	0	0.013537	0	12	75		
SLCO2A1	6578	broad.mit.edu	37	3	133667440	133667440	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:133667440G>A	ENST00000310926.4	-	8	1318	c.1045C>T	c.(1045-1047)Ctc>Ttc	p.L349F	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.L273F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	349					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	AACTTGTTGAGGAAGGTGGAG	0.572																																						uc003eqa.3		NaN																	0				central_nervous_system(1)	1						c.(1045-1047)CTC>TTC		solute carrier organic anion transporter family,							157.0	150.0	152.0					3																	133667440		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133667440G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1045C>T	3.37:g.133667440G>A	ENSP00000311291:p.Leu349Phe					SLCO2A1_uc003eqb.3_Missense_Mutation_p.L273F|SLCO2A1_uc011blv.1_Missense_Mutation_p.L168F	p.L349F	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			8	1319	-			349			Extracellular (Potential).		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1045C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656469	0.67586	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.62639	0.01;0.01	5.31	4.43	0.53597	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78541	0.4299	M	0.77406	2.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80712	-0.1260	10	0.54805	T	0.06	.	14.129	0.65240	0.0729:0.0:0.9271:0.0	.	168;273;349	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	F	349;273	ENSP00000311291:L349F;ENSP00000418893:L273F	ENSP00000311291:L349F	L	-	1	0	SLCO2A1	135150130	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.342000	0.72982	1.357000	0.45904	0.650000	0.86243	CTC		0.572	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1		NM_005630		4	169	0	0	0	0.009096	0	4	169		
AADAC	13	broad.mit.edu	37	3	151545957	151545957	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:151545957A>G	ENST00000232892.7	+	5	1323	c.1197A>G	c.(1195-1197)ctA>ctG	p.L399L	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	399			L -> LQ (in allele AADAC*3; decreased enzyme activity).		positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGGAAAATCTATAGTAAAACA	0.299																																					Ovarian(30;839 841 2699 32801 46334)	uc003eze.2		NaN																	0				skin(2)	2						c.(1195-1197)CTA>CTG		arylacetamide deacetylase							23.0	25.0	24.0					3																	151545957		2119	4253	6372	SO:0001819	synonymous_variant	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545957A>G	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.1197A>G	3.37:g.151545957A>G							p.L399L	NM_001086	NP_001077	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1287	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	399			Lumenal (Potential).		A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	ENST00000232892.7	37	c.1197A>G	CCDS33877.1																																																																																				0.299	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2		NM_001086		24	12	0	0	0	0.014323	0	24	12		
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159482390	159482390	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:159482390G>A	ENST00000460298.1	+	2	382	c.141G>A	c.(139-141)ctG>ctA	p.L47L	IQCJ-SCHIP1_ENST00000476809.1_Silent_p.L123L|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1-AS1_ENST00000460574.1_RNA|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.L74L|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.L150L|IQCJ-SCHIP1_ENST00000337808.6_Silent_p.L74L					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TGTCTGCCCTGGAGGACTATG	0.627																																						uc003fcs.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(220-222)CTG>CTA		schwannomin interacting protein 1							31.0	29.0	30.0					3																	159482390		2203	4300	6503	SO:0001819	synonymous_variant	29970					cytoplasm	identical protein binding|protein binding	g.chr3:159482390G>A		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.141G>A	3.37:g.159482390G>A						SCHIP1_uc003fcq.1_Silent_p.L150L|SCHIP1_uc003fcr.1_Silent_p.L63L|SCHIP1_uc003fct.1_Silent_p.L74L|SCHIP1_uc010hvz.1_Silent_p.L47L	p.L74L	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		2	288	+			74						Silent	SNP	ENST00000460298.1	37	c.222G>A																																																																																					0.627	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2		NM_001197113		6	4	0	0	0	0.001984	0	6	4		
NLGN1	22871	broad.mit.edu	37	3	173996714	173996714	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:173996714A>T	ENST00000457714.1	+	6	1352	c.923A>T	c.(922-924)cAa>cTa	p.Q308L	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.Q308L|NLGN1_ENST00000361589.4_Missense_Mutation_p.Q308L|NLGN1_ENST00000401917.3_Missense_Mutation_p.Q348L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	325					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTTAGTTTTCAACCTGCAAAA	0.388																																						uc003fio.1		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(922-924)CAA>CTA		neuroligin 1							87.0	86.0	86.0					3																	173996714		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996714A>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.923A>T	3.37:g.173996714A>T	ENSP00000392500:p.Gln308Leu					NLGN1_uc010hww.1_Missense_Mutation_p.Q348L|NLGN1_uc003fip.1_Missense_Mutation_p.Q308L	p.Q308L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1346	+	Ovarian(172;0.0025)		325			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.923A>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409067	0.83340	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.59	5.59	0.84812	.	0.057178	0.64402	D	0.000001	T	0.74215	0.3687	L	0.48260	1.515	0.80722	D	1	P;P	0.51791	0.948;0.565	P;B	0.57960	0.83;0.419	T	0.76716	-0.2857	10	0.72032	D	0.01	.	16.065	0.80865	1.0:0.0:0.0:0.0	.	348;308	D2X2H5;Q8N2Q7-2	.;.	L	308;308;348;308;348	ENSP00000392500:Q308L;ENSP00000354541:Q308L;ENSP00000410374:Q348L;ENSP00000441108:Q308L;ENSP00000385750:Q348L	ENSP00000354541:Q308L	Q	+	2	0	NLGN1	175479408	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.257000	0.74773	0.460000	0.39030	CAA		0.388	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3		NM_014932		11	23	0	0	0	0.013537	0	11	23		
EIF4G1	1981	broad.mit.edu	37	3	184040229	184040229	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:184040229C>T	ENST00000346169.2	+	11	1870	c.1599C>T	c.(1597-1599)gcC>gcT	p.A533A	EIF4G1_ENST00000434061.2_Silent_p.A337A|EIF4G1_ENST00000427845.1_Silent_p.A446A|EIF4G1_ENST00000352767.3_Silent_p.A540A|EIF4G1_ENST00000382330.3_Silent_p.A540A|EIF4G1_ENST00000441154.1_Silent_p.A369A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.A337A|EIF4G1_ENST00000424196.1_Silent_p.A540A|EIF4G1_ENST00000342981.4_Silent_p.A533A|EIF4G1_ENST00000414031.1_Silent_p.A493A|EIF4G1_ENST00000392537.2_Silent_p.A446A|EIF4G1_ENST00000411531.1_Silent_p.A493A|EIF4G1_ENST00000319274.6_Silent_p.A533A|EIF4G1_ENST00000350481.5_Silent_p.A369A	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	533					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTGGATGCCTTCAAGGAGG	0.438																																						uc003fnp.2		NaN																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1597-1599)GCC>GCT		eukaryotic translation initiation factor 4							53.0	51.0	52.0					3																	184040229		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184040229C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1599C>T	3.37:g.184040229C>T						EIF4G1_uc003fno.1_Silent_p.A474A|EIF4G1_uc010hxw.1_Silent_p.A369A|EIF4G1_uc003fnt.2_Silent_p.A244A|EIF4G1_uc003fnq.2_Silent_p.A446A|EIF4G1_uc003fnr.2_Silent_p.A369A|EIF4G1_uc010hxx.2_Silent_p.A540A|EIF4G1_uc003fns.2_Silent_p.A493A|EIF4G1_uc010hxy.2_Silent_p.A540A|EIF4G1_uc003fnv.3_Silent_p.A533A|EIF4G1_uc003fnu.3_Silent_p.A533A|EIF4G1_uc003fnw.2_Silent_p.A540A|EIF4G1_uc003fnx.2_Silent_p.A337A|EIF4G1_uc003fny.3_Silent_p.A337A	p.A533A	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	1797	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		533					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.1599C>T	CCDS3259.1																																																																																				0.438	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1		NM_182917		8	21	0	0	0	0.006214	0	8	21		
ZNF721	170960	broad.mit.edu	37	4	436514	436514	+	Missense_Mutation	SNP	C	C	G	rs534617808		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:436514C>G	ENST00000338977.5	-	2	1754	c.1706G>C	c.(1705-1707)gGa>gCa	p.G569A	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.G581A|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGGTTTCTCTCCAGTATGAAT	0.398																																						uc003gag.2		NaN																	0				ovary(1)	1						c.(1741-1743)GGA>GCA		zinc finger protein 721							119.0	132.0	128.0					4																	436514		2138	4256	6394	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:436514C>G	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1706G>C	4.37:g.436514C>G	ENSP00000340524:p.Gly569Ala					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G613A|ZNF721_uc010ibe.2_Missense_Mutation_p.G569A	p.G581A	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	2433	-			581					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1742G>C		.	.	.	.	.	.	.	.	.	.	C	14.72	2.620941	0.46736	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.01505	4.82;4.82	1.28	-0.0748	0.13729	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	L	0.54965	1.715	0.26411	N	0.976257	D;D;D	0.71674	0.998;0.995;0.994	D;D;D	0.76575	0.988;0.988;0.979	T	0.32613	-0.9900	9	0.72032	D	0.01	.	6.6728	0.23078	0.0:0.7024:0.2976:0.0	.	569;581;581	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	A	569;581	ENSP00000340524:G569A;ENSP00000428878:G581A	ENSP00000340524:G569A	G	-	2	0	ZNF721	426514	0.001000	0.12720	0.061000	0.19648	0.362000	0.29581	0.373000	0.20484	0.672000	0.31204	0.184000	0.17185	GGA		0.398	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1		NM_133474		27	123	0	0	0	0.00632	0	27	123		
ADD1	118	broad.mit.edu	37	4	2927796	2927796	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:2927796G>T	ENST00000398129.1	+	13	1838	c.1818G>T	c.(1816-1818)gcG>gcT	p.A606A	ADD1_ENST00000446856.1_Silent_p.A606A|ADD1_ENST00000398125.1_Silent_p.A637A|ADD1_ENST00000513328.2_Silent_p.A606A|ADD1_ENST00000503455.2_Silent_p.A637A|ADD1_ENST00000355842.3_Silent_p.A637A|ADD1_ENST00000264758.7_Silent_p.A637A|ADD1_ENST00000398123.2_Silent_p.A637A			P35611	ADDA_HUMAN	adducin 1 (alpha)	606				A -> E (in Ref. 3; AAB05645). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCAGCCTGCGGTCCCCCACC	0.622																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfr.2		NaN																	0				ovary(1)	1						c.(1816-1818)GCG>GCT		adducin 1 (alpha) isoform a							52.0	58.0	56.0					4																	2927796		2203	4300	6503	SO:0001819	synonymous_variant	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2927796G>T	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1818G>T	4.37:g.2927796G>T						ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Silent_p.A637A|ADD1_uc003gfp.2_Silent_p.A606A|ADD1_uc003gfq.2_Silent_p.A637A|ADD1_uc003gfs.2_Silent_p.A637A	p.A606A	NM_001119	NP_001110	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	14	2006	+			606	A -> E (in Ref. 2; AAB05645).				A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	c.1818G>T	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	2.184	-0.386869	0.04966	.	.	ENSG00000087274	ENST00000514940;ENST00000536424;ENST00000541843	T	0.54479	0.57	5.06	-10.1	0.00402	.	.	.	.	.	T	0.25158	0.0611	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.09707	-1.0662	5	.	.	.	-4.7815	2.3587	0.04301	0.2683:0.3768:0.1774:0.1774	.	.	.	.	L	343;54;52	ENSP00000438069:R54L	.	R	+	2	0	ADD1	2897594	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.701000	0.01903	-2.737000	0.00381	-1.193000	0.01689	CGG		0.622	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1		NM_014189		10	45	1	0	6.40141e-05	0.010729	7.02399e-05	10	45		
TADA2B	93624	broad.mit.edu	37	4	7045505	7045505	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:7045505G>A	ENST00000310074.7	+	1	388	c.199G>A	c.(199-201)Gag>Aag	p.E67K	TADA2B_ENST00000512388.1_Intron|CCDC96_ENST00000310085.4_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	67	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GCCCGAGGCCGAGGGCGGCTG	0.736																																						uc003gjw.3		NaN																	0					0						c.(199-201)GAG>AAG		transcriptional adaptor 2 (ADA2 homolog,							8.0	10.0	9.0					4																	7045505		1868	3996	5864	SO:0001583	missense	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7045505G>A	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.199G>A	4.37:g.7045505G>A	ENSP00000308022:p.Glu67Lys					CCDC96_uc003gjv.2_5'Flank|TADA2B_uc010idi.2_Intron	p.E67K	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN			1	350	+			67			SANT.		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	c.199G>A	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	G	2.821	-0.244872	0.05906	.	.	ENSG00000173011	ENST00000310074	T	0.55930	0.49	3.13	1.01	0.19927	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.132610	0.49305	U	0.000157	T	0.38532	0.1044	L	0.52905	1.665	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	T	0.11348	-1.0591	10	0.12103	T	0.63	-21.9866	7.3179	0.26511	0.0:0.1853:0.6243:0.1904	.	67	Q86TJ2	TAD2B_HUMAN	K	67	ENSP00000308022:E67K	ENSP00000308022:E67K	E	+	1	0	TADA2B	7096406	1.000000	0.71417	0.991000	0.47740	0.402000	0.30811	4.900000	0.63252	0.384000	0.24942	-0.516000	0.04426	GAG		0.736	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2		NM_152293		4	18	0	0	0	0.014758	0	4	18		
TLR10	81793	broad.mit.edu	37	4	38776079	38776079	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:38776079A>T	ENST00000308973.4	-	4	1738	c.1133T>A	c.(1132-1134)aTt>aAt	p.I378N	TLR10_ENST00000508334.1_Missense_Mutation_p.I378N|TLR10_ENST00000506111.1_Missense_Mutation_p.I378N|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.I378N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	378					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GCCATTCAAAATGAGAGTTTT	0.328																																						uc003gti.2		NaN																	0				lung(1)|breast(1)	2						c.(1132-1134)ATT>AAT		toll-like receptor 10 precursor							66.0	71.0	69.0					4																	38776079		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776079A>T	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1133T>A	4.37:g.38776079A>T	ENSP00000308925:p.Ile378Asn					TLR10_uc003gtj.2_Missense_Mutation_p.I378N|TLR10_uc003gtk.2_Missense_Mutation_p.I378N	p.I378N	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	1512	-			378			Extracellular (Potential).|LRR 10.		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.1133T>A	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.353324	0.24512	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.17	5.17	0.71159	.	0.434585	0.18086	N	0.152139	T	0.16385	0.0394	N	0.17674	0.51	0.27154	N	0.96134	B	0.19935	0.04	B	0.30716	0.119	T	0.15636	-1.0430	10	0.49607	T	0.09	.	10.2813	0.43541	0.8527:0.0:0.0:0.1473	.	378	Q9BXR5	TLR10_HUMAN	N	378	ENSP00000308925:I378N;ENSP00000421483:I378N;ENSP00000354459:I378N;ENSP00000424923:I378N	ENSP00000308925:I378N	I	-	2	0	TLR10	38452474	0.211000	0.23529	0.998000	0.56505	0.804000	0.45430	1.204000	0.32296	1.953000	0.56701	0.477000	0.44152	ATT		0.328	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1				24	37	0	0	0	0.016522	0	24	37		
TLR10	81793	broad.mit.edu	37	4	38776209	38776209	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:38776209T>G	ENST00000308973.4	-	4	1608	c.1003A>C	c.(1003-1005)Aat>Cat	p.N335H	TLR10_ENST00000508334.1_Missense_Mutation_p.N335H|TLR10_ENST00000506111.1_Missense_Mutation_p.N335H|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.N335H	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	335					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTTGTGCATTTGATATTGTC	0.308																																						uc003gti.2		NaN																	0				lung(1)|breast(1)	2						c.(1003-1005)AAT>CAT		toll-like receptor 10 precursor							103.0	104.0	104.0					4																	38776209		2202	4300	6502	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776209T>G	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1003A>C	4.37:g.38776209T>G	ENSP00000308925:p.Asn335His					TLR10_uc003gtj.2_Missense_Mutation_p.N335H|TLR10_uc003gtk.2_Missense_Mutation_p.N335H	p.N335H	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	1382	-			335			LRR 8.|Extracellular (Potential).		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.1003A>C	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731536	0.30684	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	4.99	2.27	0.28462	.	0.167298	0.26773	N	0.022566	T	0.72518	0.3470	N	0.19112	0.55	0.20926	N	0.999822	P	0.40250	0.709	P	0.45913	0.497	T	0.64093	-0.6488	10	0.66056	D	0.02	.	4.018	0.09652	0.1383:0.6141:0.1344:0.1132	.	335	Q9BXR5	TLR10_HUMAN	H	335	ENSP00000308925:N335H;ENSP00000421483:N335H;ENSP00000354459:N335H;ENSP00000424923:N335H	ENSP00000308925:N335H	N	-	1	0	TLR10	38452604	0.118000	0.22208	0.998000	0.56505	0.959000	0.62525	2.813000	0.48002	0.138000	0.18790	-0.361000	0.07541	AAT		0.308	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1				22	20	0	0	0	0.012319	0	22	20		
N4BP2	55728	broad.mit.edu	37	4	40146392	40146392	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:40146392G>C	ENST00000261435.6	+	16	5531	c.5115G>C	c.(5113-5115)ttG>ttC	p.L1705F		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1705	Smr. {ECO:0000255|PROSITE- ProRule:PRU00321}.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TAGAACATTTGATGAGAGTTT	0.393																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(5113-5115)TTG>TTC		Nedd4 binding protein 2							114.0	111.0	112.0					4																	40146392		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40146392G>C	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.5115G>C	4.37:g.40146392G>C	ENSP00000261435:p.Leu1705Phe					N4BP2_uc010ifq.2_Missense_Mutation_p.L1625F|N4BP2_uc010ifr.2_Missense_Mutation_p.L1608F	p.L1705F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			16	5453	+			1705			Smr.		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.5115G>C	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.49|14.49	2.552354|2.552354	0.45487|0.45487	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.27104	.|1.69	5.15|5.15	3.05|3.05	0.35203|0.35203	.|Smr protein/MutS2 C-terminal (2);	.|0.185376	.|0.32218	.|N	.|0.006402	T|T	0.54902|0.54902	0.1887|0.1887	M|M	0.90425|0.90425	3.115|3.115	0.28611|0.28611	N|N	0.908683|0.908683	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.993;0.994	T|T	0.56384|0.56384	-0.7988|-0.7988	5|10	.|0.72032	.|D	.|0.01	-5.8516|-5.8516	11.591|11.591	0.50945|0.50945	0.0789:0.128:0.7931:0.0|0.0789:0.128:0.7931:0.0	.|.	.|1688;1705	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	H|F	1335|1705;1625	.|ENSP00000261435:L1705F	.|ENSP00000261435:L1705F	D|L	+|+	1|3	0|2	N4BP2|N4BP2	39822787|39822787	1.000000|1.000000	0.71417|0.71417	0.549000|0.549000	0.28204|0.28204	0.702000|0.702000	0.40608|0.40608	2.793000|2.793000	0.47845|0.47845	1.140000|1.140000	0.42260|0.42260	0.455000|0.455000	0.32223|0.32223	GAT|TTG		0.393	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		10	27	0	0	0	0.008291	0	10	27		
GUF1	60558	broad.mit.edu	37	4	44693709	44693709	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:44693709G>A	ENST00000281543.5	+	13	1700	c.1506G>A	c.(1504-1506)atG>atA	p.M502I	GUF1_ENST00000506793.1_3'UTR|RP11-700J17.1_ENST00000610260.1_RNA	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGAAGAATATGATATTTATTG	0.313																																						uc003gww.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1504-1506)ATG>ATA		GUF1 GTPase homolog							91.0	101.0	98.0					4																	44693709		2202	4279	6481	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44693709G>A		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1506G>A	4.37:g.44693709G>A	ENSP00000281543:p.Met502Ile						p.M502I	NM_021927	NP_068746	Q8N442	GUF1_HUMAN			13	1713	+			502						Missense_Mutation	SNP	ENST00000281543.5	37	c.1506G>A	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461595	0.43736	.	.	ENSG00000151806	ENST00000281543	T	0.63744	-0.06	5.11	4.27	0.50696	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.076742	0.85682	D	0.000000	T	0.48277	0.1491	N	0.21097	0.63	0.53688	D	0.999976	B	0.02656	0.0	B	0.06405	0.002	T	0.45454	-0.9260	10	0.59425	D	0.04	-11.9266	12.7789	0.57466	0.0795:0.0:0.9205:0.0	.	502	Q8N442	GUF1_HUMAN	I	502	ENSP00000281543:M502I	ENSP00000281543:M502I	M	+	3	0	GUF1	44388466	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	3.148000	0.50647	1.276000	0.44395	0.655000	0.94253	ATG		0.313	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3		NM_021927		26	43	0	0	0	0.021523	0	26	43		
TEC	7006	broad.mit.edu	37	4	48140938	48140938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:48140938G>A	ENST00000381501.3	-	16	1794	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	TEC_ENST00000511471.2_5'Flank	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CCAGACATCTGATTTGCTGCT	0.443																																						uc003gxz.2		NaN																	0				lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(1636-1638)TCA>TTA		tec protein tyrosine kinase							108.0	95.0	99.0					4																	48140938		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48140938G>A	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1637C>T	4.37:g.48140938G>A	ENSP00000370912:p.Ser546Leu						p.S546L	NM_003215	NP_003206	P42680	TEC_HUMAN			16	1728	-			546			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1637C>T	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	G	35	5.509257	0.96386	.	.	ENSG00000135605	ENST00000381501	D	0.89343	-2.5	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95403	0.8491	10	0.87932	D	0	.	19.8397	0.96678	0.0:0.0:1.0:0.0	.	546	P42680	TEC_HUMAN	L	546	ENSP00000370912:S546L	ENSP00000370912:S546L	S	-	2	0	TEC	47835695	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	9.813000	0.99286	2.768000	0.95171	0.491000	0.48974	TCA		0.443	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3				17	21	0	0	0	0.006122	0	17	21		
SCFD2	152579	broad.mit.edu	37	4	54231440	54231440	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:54231440G>A	ENST00000401642.3	-	1	802	c.669C>T	c.(667-669)ctC>ctT	p.L223L	SCFD2_ENST00000388940.4_Silent_p.L223L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	223					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAGAGAACTGAGGCCTGACA	0.547																																						uc003gzu.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(667-669)CTC>CTT		sec1 family domain containing 2							102.0	95.0	98.0					4																	54231440		2203	4300	6503	SO:0001819	synonymous_variant	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54231440G>A	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.669C>T	4.37:g.54231440G>A						SCFD2_uc010igm.2_Silent_p.L223L	p.L223L	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	803	-			223					Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	c.669C>T	CCDS33984.1																																																																																				0.547	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3		NM_152540		9	31	0	0	0	0.004482	0	9	31		
GSX2	170825	broad.mit.edu	37	4	54967810	54967810	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:54967810G>T	ENST00000326902.2	+	2	950	c.636G>T	c.(634-636)acG>acT	p.T212T	GSX2_ENST00000548609.1_3'UTR|AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	212					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TCACTAGCACGCAACTCCTGG	0.572																																						uc010igp.1		NaN																	0					0						c.(634-636)ACG>ACT		GS homeobox 2							93.0	97.0	96.0					4																	54967810		2203	4300	6503	SO:0001819	synonymous_variant	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54967810G>T		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.636G>T	4.37:g.54967810G>T						PDGFRA_uc003haa.2_Intron	p.T212T	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		2	900	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		212			Homeobox.			Silent	SNP	ENST00000326902.2	37	c.636G>T	CCDS3494.1																																																																																				0.572	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1		NM_133267		29	34	1	0	2.12542e-12	0.00632	2.41649e-12	29	34		
UGT2B4	7363	broad.mit.edu	37	4	70361469	70361469	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:70361469C>T	ENST00000305107.6	-	1	157	c.111G>A	c.(109-111)atG>atA	p.M37I	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.M37I	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	37					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TCTTTATATTCATCCAGTGGC	0.468																																						uc003hek.3		NaN																	0				skin(2)	2						c.(109-111)ATG>ATA		UDP glucuronosyltransferase 2B4 precursor							137.0	140.0	139.0					4																	70361469		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361469C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.111G>A	4.37:g.70361469C>T	ENSP00000305221:p.Met37Ile					UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.M37I	p.M37I	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	158	-			37					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.111G>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.325856	0.01309	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000510114	T;T;T	0.58940	0.3;0.3;0.3	2.41	-4.82	0.03171	.	0.188276	0.32002	U	0.006730	T	0.28699	0.0711	N	0.11651	0.15	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.001;0.006	T	0.02411	-1.1163	10	0.24483	T	0.36	.	8.7742	0.34751	0.1371:0.2068:0.656:0.0	.	37;37	G5E9X8;P06133	.;UD2B4_HUMAN	I	37	ENSP00000421290:M37I;ENSP00000305221:M37I;ENSP00000421113:M37I	ENSP00000305221:M37I	M	-	3	0	UGT2B4	70396058	0.101000	0.21875	0.006000	0.13384	0.025000	0.11179	-0.893000	0.04127	-1.239000	0.02532	0.306000	0.20318	ATG		0.468	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1		NM_021139		36	71	0	0	0	0.021022	0	36	71		
DCK	1633	broad.mit.edu	37	4	71863897	71863897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:71863897G>A	ENST00000286648.5	+	2	602	c.205G>A	c.(205-207)Gag>Aag	p.E69K	DCK_ENST00000504730.1_Missense_Mutation_p.E69K|MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504952.1_Missense_Mutation_p.E69K	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	69					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AGATGAATTTGAGGTATGAAA	0.318																																						uc003hfx.2		NaN																	0				ovary(1)	1						c.(205-207)GAG>AAG		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						67.0	67.0	67.0					4																	71863897		2203	4300	6503	SO:0001583	missense	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71863897G>A	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.205G>A	4.37:g.71863897G>A	ENSP00000286648:p.Glu69Lys					DCK_uc011cbb.1_5'UTR	p.E69K	NM_000788	NP_000779	P27707	DCK_HUMAN	Lung(101;0.235)		2	493	+			69					B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	c.205G>A	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222579	0.58668	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.98937	-5.25;-4.77;-5.24	5.71	4.86	0.63082	.	0.090658	0.85682	D	0.000000	D	0.98061	0.9361	M	0.86178	2.8	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	D	0.97373	0.9977	10	0.48119	T	0.1	.	16.4319	0.83847	0.0:0.1449:0.8551:0.0	.	69	P27707	DCK_HUMAN	K	69	ENSP00000286648:E69K;ENSP00000425578:E69K;ENSP00000421508:E69K	ENSP00000286648:E69K	E	+	1	0	DCK	72082761	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.075000	0.64407	1.510000	0.48803	0.655000	0.94253	GAG		0.318	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2				21	28	0	0	0	0.014323	0	21	28		
BMP2K	55589	broad.mit.edu	37	4	79833000	79833000	+	Missense_Mutation	SNP	C	C	A	rs369460173		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:79833000C>A	ENST00000335016.5	+	16	3465	c.3299C>A	c.(3298-3300)cCa>cAa	p.P1100Q	PAQR3_ENST00000515541.1_5'Flank|PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1100					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTGTCCTGCCAGGGCGGCCA	0.522																																						uc003hlk.2		NaN																	0				lung(1)	1						c.(3298-3300)CCA>CAA		BMP-2 inducible kinase isoform a							86.0	82.0	83.0					4																	79833000		1968	4167	6135	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79833000C>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.3299C>A	4.37:g.79833000C>A	ENSP00000334836:p.Pro1100Gln					PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	p.P1100Q	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			16	3465	+			1100					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.3299C>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863454	0.51482	.	.	ENSG00000138756	ENST00000335016	T	0.43688	0.94	5.41	5.41	0.78517	.	0.595355	0.17046	N	0.189112	T	0.48223	0.1488	L	0.60455	1.87	0.80722	D	1	D	0.56035	0.974	P	0.44860	0.462	T	0.53229	-0.8468	10	0.56958	D	0.05	-14.2479	19.1973	0.93695	0.0:1.0:0.0:0.0	.	1100	Q9NSY1	BMP2K_HUMAN	Q	1100	ENSP00000334836:P1100Q	ENSP00000334836:P1100Q	P	+	2	0	BMP2K	80052024	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	4.376000	0.59556	2.538000	0.85594	0.484000	0.47621	CCA		0.522	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_017593		35	50	1	0	1.22384e-17	0.013726	1.42081e-17	35	50		
ADH1B	125	broad.mit.edu	37	4	100237199	100237199	+	Silent	SNP	G	G	A	rs372727625		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:100237199G>A	ENST00000305046.8	-	5	490	c.423C>T	c.(421-423)ttC>ttT	p.F141F	ADH1B_ENST00000394887.3_Silent_p.F101F|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	141					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TGGTGCCAAGGAAGTGGTGAA	0.577																																						uc003hus.3		NaN																	0				ovary(1)|breast(1)	2						c.(421-423)TTC>TTT		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)	G		1,4405	2.1+/-5.4	0,1,2202	111.0	101.0	105.0		423	-0.2	0.1	4		105	0,8600		0,0,4300	no	coding-synonymous	ADH1B	NM_000668.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		141/376	100237199	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237199G>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.423C>T	4.37:g.100237199G>A						ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.F101F|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Silent_p.F101F	p.F141F	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	5	507	-			141					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.423C>T	CCDS34033.1																																																																																				0.577	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1		NM_000668		26	46	0	0	0	0.01892	0	26	46		
C4orf29	80167	broad.mit.edu	37	4	128930328	128930328	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:128930328T>A	ENST00000444616.1	+	6	671	c.424T>A	c.(424-426)Ttg>Atg	p.L142M	C4orf29_ENST00000398965.1_Missense_Mutation_p.L142M|C4orf29_ENST00000388795.5_Missense_Mutation_p.L60M			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	142						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGCTTCTTTATTGTTAGAAAA	0.333																																						uc003ifr.2		NaN																	0				ovary(1)	1						c.(424-426)TTG>ATG		hypothetical protein LOC80167 precursor							37.0	33.0	35.0					4																	128930328		1800	4067	5867	SO:0001583	missense	80167					extracellular region		g.chr4:128930328T>A	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.424T>A	4.37:g.128930328T>A	ENSP00000397229:p.Leu142Met					C4orf29_uc003ifq.1_RNA|C4orf29_uc003ifs.2_Missense_Mutation_p.L15M|C4orf29_uc003ift.2_5'Flank|C4orf29_uc003ifu.2_5'Flank|C4orf29_uc010inz.2_5'Flank|C4orf29_uc003ifv.2_5'Flank	p.L142M	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN			6	742	+			142					A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37	c.424T>A		.	.	.	.	.	.	.	.	.	.	T	20.8	4.056448	0.76074	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	5.3	1.54	0.23209	.	0.000000	0.64402	D	0.000001	T	0.70360	0.3215	M	0.78456	2.415	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67229	-0.5723	9	0.72032	D	0.01	-16.7731	5.9309	0.19138	0.0:0.1476:0.1394:0.713	.	60;142	B7WP89;Q0P651	.;CD029_HUMAN	M	142;142;142;60;60;15	.	ENSP00000373447:L60M	L	+	1	2	C4orf29	129149778	1.000000	0.71417	0.877000	0.34402	0.992000	0.81027	2.884000	0.48562	0.092000	0.17331	0.528000	0.53228	TTG		0.333	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1		NM_001039717		7	11	0	0	0	0.004482	0	7	11		
USP38	84640	broad.mit.edu	37	4	144135055	144135055	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:144135055T>G	ENST00000307017.4	+	9	2432	c.1926T>G	c.(1924-1926)gaT>gaG	p.D642E	USP38_ENST00000510377.1_Missense_Mutation_p.D642E	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	642	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GTATACAAGATGGTGGTCTAA	0.438																																						uc003ijb.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(1924-1926)GAT>GAG		ubiquitin specific peptidase 38							162.0	177.0	172.0					4																	144135055		2203	4300	6503	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144135055T>G	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.1926T>G	4.37:g.144135055T>G	ENSP00000303434:p.Asp642Glu					USP38_uc003ija.3_Missense_Mutation_p.D642E|USP38_uc003ijc.2_RNA	p.D642E	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			9	2460	+	all_hematologic(180;0.158)		642					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.1926T>G	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.682481	0.00745	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.07327	3.2;3.2	4.81	-0.242	0.13039	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.252278	0.32703	N	0.005742	T	0.08447	0.0210	M	0.62154	1.92	0.09310	N	1	B;B	0.20164	0.015;0.042	B;B	0.24155	0.051;0.037	T	0.39961	-0.9588	10	0.17832	T	0.49	-4.3529	8.5785	0.33614	0.0:0.3036:0.0:0.6964	.	642;642	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	E	642	ENSP00000427647:D642E;ENSP00000303434:D642E	ENSP00000303434:D642E	D	+	3	2	USP38	144354505	0.006000	0.16342	0.000000	0.03702	0.072000	0.16883	-0.409000	0.07160	-0.168000	0.10853	0.477000	0.44152	GAT		0.438	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1		NM_032557		56	124	0	0	0	0.01441	0	56	124		
TMEM154	201799	broad.mit.edu	37	4	153573937	153573937	+	Silent	SNP	C	C	A	rs370355996		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:153573937C>A	ENST00000304385.3	-	2	438	c.207G>T	c.(205-207)ccG>ccT	p.P69P	TMEM154_ENST00000504064.1_Silent_p.P69P	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	69						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GATTTTCATCCGGAGCAAAGT	0.333																																						uc003imw.1		NaN																	0					0						c.(205-207)CCG>CCT		transmembrane protein 154 precursor							105.0	107.0	106.0					4																	153573937		2203	4299	6502	SO:0001819	synonymous_variant	201799					integral to membrane		g.chr4:153573937C>A	AK056590	CCDS3779.1	4q31.3	2008-02-05			ENSG00000170006	ENSG00000170006			26489	protein-coding gene	gene with protein product						12477932	Standard	NM_152680		Approved	FLJ32028	uc003imw.2	Q6P9G4	OTTHUMG00000161463	ENST00000304385.3:c.207G>T	4.37:g.153573937C>A							p.P69P	NM_152680	NP_689893	Q6P9G4	TM154_HUMAN			2	313	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	69			Extracellular (Potential).		Q8WUT7|Q96MQ8	Silent	SNP	ENST00000304385.3	37	c.207G>T	CCDS3779.1																																																																																				0.333	TMEM154-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365024.1		NM_152680		10	34	1	0	7.03913e-09	0.013537	7.90106e-09	10	34		
FAM198B	51313	broad.mit.edu	37	4	159092463	159092463	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:159092463C>T	ENST00000296530.8	-	2	686	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.R22Q|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.R22Q|FAM198B_ENST00000592057.1_Missense_Mutation_p.R22Q|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	22						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R22P(3)|p.R22L(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTTACGCACCCGCGGGACGCA	0.587																																						uc003ipp.3		NaN																	5	Substitution - Missense(5)		urinary_tract(3)|skin(2)		0						c.(64-66)CGG>CAG		hypothetical protein LOC51313 isoform 2																																				SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159092463C>T		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.65G>A	4.37:g.159092463C>T	ENSP00000296530:p.Arg22Gln					uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22Q|FAM198B_uc003ipr.3_Missense_Mutation_p.R22Q|FAM198B_uc003ips.2_Missense_Mutation_p.R22Q|uc003ipt.1_RNA	p.R22Q	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN			2	517	-			22			Cytoplasmic (Potential).		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.65G>A	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341524	0.61073	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.31247	1.51;1.5	5.31	5.31	0.75309	.	0.462866	0.22223	N	0.062921	T	0.51176	0.1659	L	0.54323	1.7	0.19945	N	0.99994	D;P;P	0.89917	1.0;0.945;0.945	D;P;B	0.67382	0.951;0.482;0.361	T	0.39272	-0.9622	10	0.38643	T	0.18	0.2039	19.1738	0.93594	0.0:1.0:0.0:0.0	.	22;22;22	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	Q	22	ENSP00000296530:R22Q;ENSP00000377396:R22Q	ENSP00000296530:R22Q	R	-	2	0	FAM198B	159311913	0.005000	0.15991	0.089000	0.20774	0.784000	0.44337	1.677000	0.37576	2.764000	0.94973	0.655000	0.94253	CGG		0.587	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1		NM_001031700, NM_016613		12	39	0	0	0	0.003163	0	12	39		
SH3RF1	57630	broad.mit.edu	37	4	170028077	170028077	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:170028077G>A	ENST00000284637.9	-	11	2760	c.2419C>T	c.(2419-2421)Ccc>Tcc	p.P807S		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	807					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGAGCGATGGGAACTGCGGAG	0.587																																						uc003isa.1		NaN																	0				breast(2)|lung(1)	3						c.(2419-2421)CCC>TCC		SH3 domain containing ring finger 1							62.0	65.0	64.0					4																	170028077		2200	4294	6494	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170028077G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2419C>T	4.37:g.170028077G>A	ENSP00000284637:p.Pro807Ser						p.P807S	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	11	2754	-		Prostate(90;0.00267)|Renal(120;0.0183)	807					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.2419C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992990	0.35131	.	.	ENSG00000154447	ENST00000284637	T	0.16073	2.37	5.87	5.87	0.94306	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01334	-1.1382	10	0.02654	T	1	-23.2059	20.2227	0.98327	0.0:0.0:1.0:0.0	.	807	Q7Z6J0	SH3R1_HUMAN	S	807	ENSP00000284637:P807S	ENSP00000284637:P807S	P	-	1	0	SH3RF1	170264652	1.000000	0.71417	0.221000	0.23827	0.003000	0.03518	8.650000	0.91073	2.778000	0.95560	0.650000	0.86243	CCC		0.587	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3		NM_020870		30	45	0	0	0	0.007291	0	30	45		
SH3RF1	57630	broad.mit.edu	37	4	170028181	170028181	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:170028181G>T	ENST00000284637.9	-	11	2656	c.2315C>A	c.(2314-2316)tCc>tAc	p.S772Y		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	772					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CACAGGGCAGGAGCCTGCCCT	0.662																																						uc003isa.1		NaN																	0				breast(2)|lung(1)	3						c.(2314-2316)TCC>TAC		SH3 domain containing ring finger 1							27.0	29.0	28.0					4																	170028181		2202	4300	6502	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170028181G>T	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2315C>A	4.37:g.170028181G>T	ENSP00000284637:p.Ser772Tyr						p.S772Y	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	11	2650	-		Prostate(90;0.00267)|Renal(120;0.0183)	772					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.2315C>A	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664035	0.47572	.	.	ENSG00000154447	ENST00000284637	T	0.19532	2.14	5.83	5.83	0.93111	.	0.483072	0.26496	N	0.024059	T	0.22044	0.0531	L	0.60455	1.87	0.39548	D	0.968929	P	0.38582	0.638	B	0.31191	0.125	T	0.04991	-1.0913	10	0.72032	D	0.01	-12.1508	15.2734	0.73723	0.0686:0.0:0.9314:0.0	.	772	Q7Z6J0	SH3R1_HUMAN	Y	772	ENSP00000284637:S772Y	ENSP00000284637:S772Y	S	-	2	0	SH3RF1	170264756	0.821000	0.29204	0.970000	0.41538	0.162000	0.22319	2.113000	0.41902	2.769000	0.95229	0.655000	0.94253	TCC		0.662	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3		NM_020870		7	21	1	0	2.17888e-05	0.006214	2.41488e-05	7	21		
SDHA	6389	broad.mit.edu	37	5	235398	235398	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:235398G>C	ENST00000264932.6	+	9	1319	c.1204G>C	c.(1204-1206)Gtc>Ctc	p.V402L	SDHA_ENST00000504309.1_Missense_Mutation_p.V402L|SDHA_ENST00000510361.1_Missense_Mutation_p.V354L	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	402					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCCGATCCCTGTCCTCCCCAC	0.617									Familial Paragangliomas																													uc003jao.3		NaN																	0					0						c.(1204-1206)GTC>CTC		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						72.0	63.0	66.0					5																	235398		2203	4300	6503	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:235398G>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1204G>C	5.37:g.235398G>C	ENSP00000264932:p.Val402Leu					SDHA_uc003jan.2_Missense_Mutation_p.V402L|SDHA_uc011clv.1_Missense_Mutation_p.V402L|SDHA_uc011clw.1_Missense_Mutation_p.V354L|SDHA_uc003jap.3_Missense_Mutation_p.V402L|SDHA_uc003jaq.3_Missense_Mutation_p.V177L|SDHA_uc003jar.3_Intron	p.V402L	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		9	1319	+			402					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1204G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	g	32	5.169468	0.94768	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.70399	-0.48;-0.48;-0.48	5.12	5.12	0.69794	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.64402	U	0.000002	D	0.91908	0.7438	H	0.99948	5.02	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.972;0.986;0.973;0.973	D;P;P;P;P	0.66084	0.941;0.839;0.839;0.736;0.736	D	0.95711	0.8758	10	0.87932	D	0	.	16.4201	0.83755	0.0:0.0:1.0:0.0	.	354;402;402;402;408	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	L	402;257;402;354	ENSP00000264932:V402L;ENSP00000426514:V402L;ENSP00000427703:V354L	ENSP00000264932:V402L	V	+	1	0	SDHA	288398	1.000000	0.71417	0.815000	0.32552	0.950000	0.60333	9.061000	0.93913	2.541000	0.85698	0.557000	0.71058	GTC		0.617	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1		NM_004168		18	60	0	0	0	0.012319	0	18	60		
FASTKD3	79072	broad.mit.edu	37	5	7861273	7861273	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:7861273G>C	ENST00000264669.5	-	6	2009	c.1873C>G	c.(1873-1875)Caa>Gaa	p.Q625E	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	625	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACAACTTGATAACCGAGT	0.348																																						uc003jeb.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1873-1875)CAA>GAA		FAST kinase domains 3							125.0	122.0	123.0					5																	7861273		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7861273G>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1873C>G	5.37:g.7861273G>C	ENSP00000264669:p.Gln625Glu					FASTKD3_uc011cmp.1_Missense_Mutation_p.Q327E|FASTKD3_uc003jec.2_RNA	p.Q625E	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			6	2010	-			625			RAP.		Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1873C>G	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.706887	0.00719	.	.	ENSG00000124279	ENST00000264669	T	0.14266	2.52	5.22	0.816	0.18768	RAP domain (3);	0.922249	0.09173	N	0.838572	T	0.06917	0.0176	N	0.11313	0.125	0.28434	N	0.917134	B	0.06786	0.001	B	0.04013	0.001	T	0.33879	-0.9851	10	0.05351	T	0.99	-0.0469	13.4409	0.61112	0.0:0.5763:0.2862:0.1376	.	625	Q14CZ7	FAKD3_HUMAN	E	625	ENSP00000264669:Q625E	ENSP00000264669:Q625E	Q	-	1	0	FASTKD3	7914273	0.997000	0.39634	0.012000	0.15200	0.021000	0.10359	0.820000	0.27323	0.165000	0.19558	-0.211000	0.12701	CAA		0.348	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1		NM_024091		21	48	0	0	0	0.010504	0	21	48		
SEMA5A	9037	broad.mit.edu	37	5	9063097	9063097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:9063097C>T	ENST00000382496.5	-	18	3085	c.2420G>A	c.(2419-2421)cGg>cAg	p.R807Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	807	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AACACGCTTCCGGTTCCGAAT	0.592																																						uc003jek.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2419-2421)CGG>CAG		semaphorin 5A precursor							101.0	80.0	87.0					5																	9063097		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9063097C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2420G>A	5.37:g.9063097C>T	ENSP00000371936:p.Arg807Gln						p.R807Q	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			18	3132	-			807			TSP type-1 5.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2420G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	36	5.969565	0.97156	.	.	ENSG00000112902	ENST00000382496	T	0.80738	-1.41	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93975	0.7253	10	0.87932	D	0	.	17.2182	0.86950	0.0:1.0:0.0:0.0	.	807	Q13591	SEM5A_HUMAN	Q	807	ENSP00000371936:R807Q	ENSP00000371936:R807Q	R	-	2	0	SEMA5A	9116097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.573000	0.82421	2.659000	0.90383	0.655000	0.94253	CGG		0.592	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2				8	39	0	0	0	0.004482	0	8	39		
PRDM9	56979	broad.mit.edu	37	5	23526685	23526685	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:23526685A>C	ENST00000296682.3	+	11	1670	c.1488A>C	c.(1486-1488)gaA>gaC	p.E496D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	496					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAATGGAAGAAGAGTCCAGAA	0.448										HNSCC(3;0.000094)																												uc003jgo.2		NaN																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1486-1488)GAA>GAC		PR domain containing 9							58.0	57.0	58.0					5																	23526685		2008	4185	6193	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526685A>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1488A>C	5.37:g.23526685A>C	ENSP00000296682:p.Glu496Asp	HNSCC(3;0.000094)					p.E496D	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1670	+			496					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1488A>C	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	6.658	0.490014	0.12702	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09163	3.01	2.07	0.747	0.18371	.	1.243180	0.06073	N	0.660398	T	0.13457	0.0326	L	0.50333	1.59	0.09310	N	1	D	0.53151	0.958	P	0.45276	0.475	T	0.29640	-1.0005	10	0.66056	D	0.02	0.1792	6.1563	0.20340	0.7401:0.2599:0.0:0.0	.	496	Q9NQV7	PRDM9_HUMAN	D	496;290	ENSP00000296682:E496D	ENSP00000253473:E290D	E	+	3	2	PRDM9	23562442	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.949000	0.03893	0.178000	0.19917	0.329000	0.21502	GAA		0.448	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1		NM_020227		6	35	0	0	0	0.001168	0	6	35		
PTGER4	5734	broad.mit.edu	37	5	40681893	40681893	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:40681893C>G	ENST00000302472.3	+	2	1822	c.798C>G	c.(796-798)gcC>gcG	p.A266A		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	266					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCGCGGGCGCCGAGATCCAGA	0.706																																						uc003jlz.2		NaN																	0				lung(2)	2						c.(796-798)GCC>GCG		prostaglandin E receptor 4, subtype EP4							22.0	26.0	24.0					5																	40681893		2119	4031	6150	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681893C>G	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.798C>G	5.37:g.40681893C>G							p.A266A	NM_000958	NP_000949	P35408	PE2R4_HUMAN			2	1390	+			266			Cytoplasmic (Potential).		Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.798C>G	CCDS3930.1																																																																																				0.706	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2		NM_000958		6	125	0	0	0	0.001168	0	6	125		
ISL1	3670	broad.mit.edu	37	5	50687238	50687238	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:50687238T>C	ENST00000230658.7	+	5	1481	c.896T>C	c.(895-897)tTg>tCg	p.L299S	ISL1_ENST00000511384.1_Missense_Mutation_p.L276S|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	299	Gln-rich.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GACTTCGCCTTGCAGAGTGAC	0.517																																						uc003jor.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(895-897)TTG>TCG		islet-1							80.0	78.0	79.0					5																	50687238		1941	4152	6093	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50687238T>C	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.896T>C	5.37:g.50687238T>C	ENSP00000230658:p.Leu299Ser						p.L299S	NM_002202	NP_002193	P61371	ISL1_HUMAN			5	1444	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	299			Gln-rich.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.896T>C	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469093	0.63625	.	.	ENSG00000016082	ENST00000230658;ENST00000511384	D;D	0.86956	-2.09;-2.19	5.63	5.63	0.86233	.	0.175489	0.38272	N	0.001749	D	0.88001	0.6320	M	0.81802	2.56	0.80722	D	1	P	0.36282	0.546	B	0.34873	0.191	D	0.89199	0.3556	10	0.87932	D	0	.	16.1263	0.81397	0.0:0.0:0.0:1.0	.	299	P61371	ISL1_HUMAN	S	299;276	ENSP00000230658:L299S;ENSP00000422676:L276S	ENSP00000230658:L299S	L	+	2	0	ISL1	50722995	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.257000	0.74773	0.533000	0.62120	TTG		0.517	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3		NM_002202		36	80	0	0	0	0.009718	0	36	80		
VCAN	1462	broad.mit.edu	37	5	82817219	82817219	+	Missense_Mutation	SNP	C	C	G	rs201255257		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:82817219C>G	ENST00000265077.3	+	7	3659	c.3094C>G	c.(3094-3096)Cag>Gag	p.Q1032E	VCAN_ENST00000342785.4_Missense_Mutation_p.Q1032E|VCAN_ENST00000512590.2_Missense_Mutation_p.Q984E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1032	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGGAACAACTCAGGAAGAATT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		21455	0.0		0.001	False		,,,				2504	0.0					uc003kii.3		NaN																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(3094-3096)CAG>GAG		versican isoform 1 precursor		C	,,GLU/GLN,GLU/GLN	0,4406		0,0,2203	39.0	38.0	38.0		,,3094,3094	4.1	0.0	5		38	4,8596	3.7+/-12.6	0,4,4296	yes	intron,intron,missense,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,,29,29	0,4,6499	GG,GC,CC		0.0465,0.0,0.0308	,,benign,benign	,,1032/1643,1032/3397	82817219	4,13002	2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817219C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3094C>G	5.37:g.82817219C>G	ENSP00000265077:p.Gln1032Glu					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.Q1032E|VCAN_uc003kik.3_Intron	p.Q1032E	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3450	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1032			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3094C>G	CCDS4060.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.192	-0.635149	0.03584	0.0	4.65E-4	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.85088	-1.84;-1.92;-1.94	5.03	4.13	0.48395	.	1.468830	0.04084	N	0.310062	T	0.79540	0.4463	L	0.45581	1.43	0.09310	N	1	B;B	0.29716	0.012;0.255	B;B	0.22152	0.009;0.038	T	0.61242	-0.7102	10	0.07644	T	0.81	.	9.6604	0.39952	0.1595:0.6867:0.1538:0.0	.	1032;1032	P13611-3;P13611	.;CSPG2_HUMAN	E	1032;1032;984	ENSP00000265077:Q1032E;ENSP00000342768:Q1032E;ENSP00000425959:Q984E	ENSP00000265077:Q1032E	Q	+	1	0	VCAN	82852975	0.001000	0.12720	0.027000	0.17364	0.379000	0.30106	1.115000	0.31209	1.283000	0.44513	0.467000	0.42956	CAG		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		2	16	0	0	0	0.004672	0	2	16		
WDR36	134430	broad.mit.edu	37	5	110445967	110445967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:110445967C>T	ENST00000513710.2	+	13	1578	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	WDR36_ENST00000506538.2_Missense_Mutation_p.S525F|WDR36_ENST00000505303.1_Missense_Mutation_p.S469F			Q8NI36	WDR36_HUMAN	WD repeat domain 36	525					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AACATGCAGTCTGGCATACAT	0.358																																						uc003kpd.2		NaN																	0				ovary(1)|skin(1)	2						c.(1573-1575)TCT>TTT		WD repeat domain 36							191.0	186.0	188.0					5																	110445967		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110445967C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1574C>T	5.37:g.110445967C>T	ENSP00000424628:p.Ser525Phe					WDR36_uc010jbu.2_RNA	p.S525F	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	13	1691	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	525			WD 6.		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.1574C>T	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604905	0.66445	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.74209	-0.82;-0.82;-0.67	5.28	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.048312	0.85682	N	0.000000	D	0.88742	0.6519	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90900	0.4768	10	0.87932	D	0	-16.8854	12.2575	0.54631	0.0:0.8573:0.0:0.1427	.	525	Q8NI36	WDR36_HUMAN	F	525;525;469	ENSP00000423067:S525F;ENSP00000424628:S525F;ENSP00000422158:S469F	ENSP00000422158:S469F	S	+	2	0	WDR36	110473866	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	6.017000	0.70805	1.362000	0.46000	-0.266000	0.10368	TCT		0.358	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3		NM_139281		29	16	0	0	0	0.008361	0	29	16		
TICAM2	353376	broad.mit.edu	37	5	114916656	114916656	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:114916656G>C	ENST00000427199.2	-	2	739	c.298C>G	c.(298-300)Cta>Gta	p.L100V	TICAM2_ENST00000408996.4_Missense_Mutation_p.L269V|TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.L269V|TICAM2_ENST00000513729.1_5'Flank	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	100	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		TCATCTTGTAGCAGATTCTGG	0.418																																						uc003krd.2		NaN																	0					0						c.(298-300)CTA>GTA		toll-like receptor adaptor molecule 2							204.0	207.0	206.0					5																	114916656		2202	4300	6502	SO:0001583	missense	100302736				I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chr5:114916656G>C	AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.298C>G	5.37:g.114916656G>C	ENSP00000415139:p.Leu100Val					TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.L269V|TICAM2_uc003krc.2_Missense_Mutation_p.L100V	p.L100V	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN			4	1304	-			100			TIR.		B3Y698|Q6JUT2	Missense_Mutation	SNP	ENST00000427199.2	37	c.298C>G	CCDS4119.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949792	0.73787	.	.	ENSG00000243414;ENSG00000243414;ENSG00000251201	ENST00000408996;ENST00000427199;ENST00000282382	T;T;T	0.16324	2.35;2.35;2.35	5.81	4.94	0.65067	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.40469	N	0.001085	T	0.24624	0.0597	L	0.31476	0.935	0.32020	N	0.600946	P;D	0.56746	0.884;0.977	P;P	0.60609	0.621;0.877	T	0.14062	-1.0486	10	0.33940	T	0.23	.	11.9291	0.52837	0.0814:0.0:0.9186:0.0	.	269;100	Q6JUT2;Q86XR7	.;TCAM2_HUMAN	V	269;100;269	ENSP00000386341:L269V;ENSP00000415139:L100V;ENSP00000282382:L269V	ENSP00000415139:L100V	L	-	1	2	TICAM2;TMED7-TICAM2	114944555	1.000000	0.71417	0.820000	0.32676	0.994000	0.84299	3.075000	0.50073	1.466000	0.48025	0.585000	0.79938	CTA		0.418	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338755.1		NM_021649		20	128	0	0	0	0.014323	0	20	128		
FBN2	2201	broad.mit.edu	37	5	127693083	127693083	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:127693083T>C	ENST00000508053.1	-	26	3533	c.2559A>G	c.(2557-2559)atA>atG	p.I853M	FBN2_ENST00000262464.4_Missense_Mutation_p.I853M|FBN2_ENST00000508989.1_Missense_Mutation_p.I820M			P35556	FBN2_HUMAN	fibrillin 2	853	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACATTCATTTATATCTACAA	0.423																																						uc003kuu.2		NaN																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2557-2559)ATA>ATG		fibrillin 2 precursor							71.0	72.0	72.0					5																	127693083		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127693083T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2559A>G	5.37:g.127693083T>C	ENSP00000424571:p.Ile853Met					FBN2_uc003kuv.2_Missense_Mutation_p.I820M	p.I853M	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	20	2998	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	853			EGF-like 13; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2559A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370510	0.42003	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.93547	-3.24;-3.24;-3.24	4.9	2.38	0.29361	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.569546	0.17528	N	0.170995	D	0.94653	0.8276	M	0.77486	2.375	0.30290	N	0.790476	P;B	0.42409	0.779;0.162	P;B	0.50791	0.65;0.351	D	0.91878	0.5513	10	0.72032	D	0.01	.	12.0396	0.53446	0.0:0.0:0.2726:0.7274	.	820;853	D6RJI3;P35556	.;FBN2_HUMAN	M	853;853;820	ENSP00000262464:I853M;ENSP00000424571:I853M;ENSP00000425596:I820M	ENSP00000262464:I853M	I	-	3	3	FBN2	127720982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.738000	0.26158	0.402000	0.25451	0.459000	0.35465	ATA		0.423	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		29	7	0	0	0	0.007291	0	29	7		
SLC27A6	28965	broad.mit.edu	37	5	128324319	128324319	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:128324319C>G	ENST00000262462.4	+	3	1722	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	SLC27A6_ENST00000506176.1_Missense_Mutation_p.Q238E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.Q238E			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	238					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTGATTAGTCAGCTGCAGGT	0.378																																						uc003kuy.2		NaN																	0					0						c.(712-714)CAG>GAG		solute carrier family 27 (fatty acid							171.0	174.0	173.0					5																	128324319		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128324319C>G	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.712C>G	5.37:g.128324319C>G	ENSP00000262462:p.Gln238Glu					SLC27A6_uc003kuz.2_Missense_Mutation_p.Q238E	p.Q238E	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	4	1108	+		all_cancers(142;0.0483)|Prostate(80;0.055)	238					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.712C>G	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826378	0.32329	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.18	4.18	0.49190	AMP-dependent synthetase/ligase (1);	0.274240	0.41712	D	0.000835	T	0.47116	0.1428	M	0.78049	2.395	0.40509	D	0.980727	B	0.24721	0.11	B	0.25759	0.063	T	0.49960	-0.8883	9	.	.	.	-13.2814	17.8288	0.88674	0.0:1.0:0.0:0.0	.	238	Q9Y2P4	S27A6_HUMAN	E	57;238;238;238	ENSP00000421759:Q57E;ENSP00000262462:Q238E;ENSP00000378684:Q238E;ENSP00000421024:Q238E	.	Q	+	1	0	SLC27A6	128352218	0.996000	0.38824	0.334000	0.25495	0.431000	0.31685	4.123000	0.57917	2.640000	0.89533	0.655000	0.94253	CAG		0.378	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1		NM_014031		53	29	0	0	0	0.01441	0	53	29		
AFF4	27125	broad.mit.edu	37	5	132223670	132223670	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:132223670T>C	ENST00000265343.5	-	16	3180	c.2801A>G	c.(2800-2802)gAt>gGt	p.D934G		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	934					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAAACCTATCAGACTGAAG	0.348																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NaN																	0				ovary(2)|kidney(2)|skin(1)	5						c.(2800-2802)GAT>GGT		ALL1 fused gene from 5q31							112.0	106.0	108.0					5																	132223670		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132223670T>C	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2801A>G	5.37:g.132223670T>C	ENSP00000265343:p.Asp934Gly					AFF4_uc011cxk.1_Missense_Mutation_p.D612G	p.D934G	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	3209	-		all_cancers(142;0.145)|Breast(839;0.198)	934					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.2801A>G	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761262	0.69763	.	.	ENSG00000072364	ENST00000265343	T	0.70164	-0.46	5.9	5.9	0.94986	.	0.279314	0.39615	N	0.001310	T	0.80182	0.4576	M	0.80616	2.505	0.80722	D	1	D	0.61697	0.99	P	0.57283	0.817	T	0.83255	-0.0051	10	0.87932	D	0	-3.9951	16.378	0.83412	0.0:0.0:0.0:1.0	.	934	Q9UHB7	AFF4_HUMAN	G	934	ENSP00000265343:D934G	ENSP00000265343:D934G	D	-	2	0	AFF4	132251569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.277000	0.76020	0.529000	0.55759	GAT		0.348	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1		NM_014423		20	11	0	0	0	0.010504	0	20	11		
ZNF300	91975	broad.mit.edu	37	5	150275116	150275116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:150275116G>A	ENST00000274599.5	-	6	2105	c.1685C>T	c.(1684-1686)tCa>tTa	p.S562L	ZNF300_ENST00000446148.2_Missense_Mutation_p.S578L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.S562L|ZNF300_ENST00000418587.2_Missense_Mutation_p.S526L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAAGGTCTGACTTCTGAGA	0.458																																						uc003lsy.1		NaN																	0				ovary(1)|skin(1)	2						c.(1684-1686)TCA>TTA		zinc finger protein 300							81.0	83.0	82.0					5																	150275116		2203	4299	6502	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275116G>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1685C>T	5.37:g.150275116G>A	ENSP00000274599:p.Ser562Leu					IRGM_uc011dcl.1_Intron	p.S562L	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1952	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	562			C2H2-type 11.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.1685C>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872862	0.51695	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	3.81	3.81	0.43845	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14184	0.0343	M	0.64260	1.97	0.09310	N	1	P	0.42078	0.77	B	0.42738	0.396	T	0.06534	-1.0821	9	0.87932	D	0	.	13.5872	0.61937	0.0:0.0:1.0:0.0	.	562	Q96RE9	ZN300_HUMAN	L	578;562;526;562	ENSP00000397178:S578L;ENSP00000274599:S562L;ENSP00000392593:S526L;ENSP00000377773:S562L	ENSP00000274599:S562L	S	-	2	0	ZNF300	150255309	0.000000	0.05858	0.999000	0.59377	0.988000	0.76386	0.229000	0.17833	2.157000	0.67596	0.591000	0.81541	TCA		0.458	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_052860		34	15	0	0	0	0.015359	0	34	15		
F12	2161	broad.mit.edu	37	5	176830946	176830946	+	Silent	SNP	G	G	A	rs561975736		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:176830946G>A	ENST00000253496.3	-	10	1212	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	388	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	AGTACAGCGCGGCGATGTAGG	0.716									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mgo.3		NaN																	0					0						c.(1162-1164)GCC>GCT		coagulation factor XII precursor							11.0	13.0	13.0					5																	176830946		2175	4277	6452	SO:0001819	synonymous_variant	2161	Hereditary_Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176830946G>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1164C>T	5.37:g.176830946G>A			OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934	F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA	p.A388A	NM_000505	NP_000496	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1213	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	388			Peptidase S1.		P78339	Silent	SNP	ENST00000253496.3	37	c.1164C>T	CCDS34302.1																																																																																				0.716	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1				6	6	0	0	0	0.001984	0	6	6		
F12	2161	broad.mit.edu	37	5	176831565	176831565	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:176831565G>A	ENST00000253496.3	-	8	783	c.735C>T	c.(733-735)gcC>gcT	p.A245A	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	245	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	TCCGGTAGGTGGCCTCCGAGG	0.726									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mgo.3		NaN																	0					0						c.(733-735)GCC>GCT		coagulation factor XII precursor							11.0	14.0	13.0					5																	176831565		2177	4279	6456	SO:0001819	synonymous_variant	2161	Hereditary_Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176831565G>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.735C>T	5.37:g.176831565G>A			OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934	F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	p.A245A	NM_000505	NP_000496	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	784	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	245			Kringle.		P78339	Silent	SNP	ENST00000253496.3	37	c.735C>T	CCDS34302.1																																																																																				0.726	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1				10	4	0	0	0	0.006214	0	10	4		
MAPK9	5601	broad.mit.edu	37	5	179696343	179696343	+	Missense_Mutation	SNP	G	G	T	rs148710250	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:179696343G>T	ENST00000452135.2	-	3	487	c.189C>A	c.(187-189)aaC>aaA	p.N63K	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.N63K|MAPK9_ENST00000425491.2_Missense_Mutation_p.N63K|MAPK9_ENST00000539014.1_Missense_Mutation_p.N63K|MAPK9_ENST00000455781.1_Missense_Mutation_p.N63K|MAPK9_ENST00000393360.3_Missense_Mutation_p.N63K|MAPK9_ENST00000343111.6_Missense_Mutation_p.N63K			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGAGTTTGGTTCTGAAAAG	0.348																																						uc003mls.3		NaN																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(187-189)AAC>AAA		mitogen-activated protein kinase 9 isoform JNK2							119.0	108.0	112.0					5																	179696343		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179696343G>T	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.189C>A	5.37:g.179696343G>T	ENSP00000394560:p.Asn63Lys					MAPK9_uc003mlt.3_Missense_Mutation_p.N63K|MAPK9_uc010jlc.2_Missense_Mutation_p.N63K|MAPK9_uc003mlv.3_Missense_Mutation_p.N63K|MAPK9_uc011dgx.1_Missense_Mutation_p.N63K	p.N63K	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	460	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	63			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.189C>A	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435642	0.62955	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014;ENST00000523583	D;D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.81	-2.43	0.06522	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78947	0.4364	N	0.17674	0.51	0.80722	D	1	P;D;P;P;D	0.63046	0.929;0.992;0.881;0.929;0.989	P;P;B;P;P	0.59546	0.569;0.817;0.349;0.569;0.859	T	0.74031	-0.3795	9	.	.	.	-36.9276	14.0598	0.64793	0.506:0.0:0.494:0.0	.	63;63;63;63;63	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	K	63	ENSP00000394560:N63K;ENSP00000377028:N63K;ENSP00000389338:N63K;ENSP00000345524:N63K;ENSP00000321410:N63K;ENSP00000397422:N63K;ENSP00000443149:N63K;ENSP00000430608:N63K	.	N	-	3	2	MAPK9	179628949	1.000000	0.71417	0.797000	0.32132	0.958000	0.62258	0.715000	0.25822	-0.638000	0.05509	-0.948000	0.02665	AAC		0.348	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3				34	5	1	0	3.90053e-15	0.012213	4.49275e-15	34	5		
PRPF4B	8899	broad.mit.edu	37	6	4059021	4059021	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:4059021C>T	ENST00000337659.6	+	14	2893	c.2793C>T	c.(2791-2793)taC>taT	p.Y931Y	PRPF4B_ENST00000538861.1_Silent_p.Y917Y|PRPF4B_ENST00000494674.1_3'UTR	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	931	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ACTTCATGTACATAGAAGTTG	0.313																																						uc003mvv.2		NaN																	0				breast(5)	5						c.(2791-2793)TAC>TAT		serine/threonine-protein kinase PRP4K							64.0	64.0	64.0					6																	4059021		2203	4297	6500	SO:0001819	synonymous_variant	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4059021C>T	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2793C>T	6.37:g.4059021C>T						PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	p.Y931Y	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			14	2884	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	931			Protein kinase.		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Silent	SNP	ENST00000337659.6	37	c.2793C>T	CCDS4488.1																																																																																				0.313	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2				8	37	0	0	0	0.00308	0	8	37		
RREB1	6239	broad.mit.edu	37	6	7211055	7211055	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:7211055G>A	ENST00000349384.6	+	7	758	c.444G>A	c.(442-444)gaG>gaA	p.E148E	RREB1_ENST00000379933.3_Silent_p.E148E|RREB1_ENST00000379938.2_Silent_p.E148E|RREB1_ENST00000334984.6_Silent_p.E148E	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	148					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGATCCATGAGAAGGACCCTA	0.423																																						uc003mxc.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(442-444)GAG>GAA		ras responsive element binding protein 1 isoform							96.0	90.0	92.0					6																	7211055		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7211055G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.444G>A	6.37:g.7211055G>A						RREB1_uc010jnw.2_Silent_p.E148E|RREB1_uc003mxb.2_Silent_p.E148E|RREB1_uc010jnx.2_Silent_p.E148E|RREB1_uc003mxd.2_Silent_p.E148E	p.E148E	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			7	834	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	148					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.444G>A	CCDS34336.1																																																																																				0.423	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1				30	70	0	0	0	0.00632	0	30	70		
PRL	5617	broad.mit.edu	37	6	22297250	22297250	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:22297250G>C	ENST00000306482.1	-	0	480				RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CACCAGAGAAGATCTGGAAGT	0.408																																						uc003ndp.2		NaN																	0					0						c.(-40--36)ATCTT>ATGTT		prolactin precursor							131.0	105.0	114.0					6																	22297250		2203	4300	6503			5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22297250G>C	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.-39C>G	6.37:g.22297250G>C						PRL_uc003ndo.2_Translation_Start_Site|PRL_uc003ndq.2_Translation_Start_Site|PRL_uc003ndr.1_RNA		NM_000948	NP_000939	P01236	PRL_HUMAN			1	481	-	Ovarian(93;0.163)							Q15199|Q92996	Translation_Start_Site	SNP	ENST00000306482.1	37	c.-38C>G	CCDS4548.1																																																																																				0.408	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1		NM_000948		16	29	0	0	0	0.004007	0	16	29		
GPLD1	2822	broad.mit.edu	37	6	24433445	24433445	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:24433445G>A	ENST00000230036.1	-	24	2516	c.2406C>T	c.(2404-2406)agC>agT	p.S802S		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	802					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGATGAGGGAGCTCCCAAACC	0.453																																						uc003ned.1		NaN																	0				ovary(2)|kidney(1)	3						c.(2404-2406)AGC>AGT		glycosylphosphatidylinositol specific							196.0	183.0	187.0					6																	24433445		2203	4300	6503	SO:0001819	synonymous_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24433445G>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2406C>T	6.37:g.24433445G>A							p.S802S	NM_001503	NP_001494	P80108	PHLD_HUMAN			24	2517	-			802			FG-GAP 7.		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	c.2406C>T	CCDS4553.1																																																																																				0.453	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1		NM_001503		17	163	0	0	0	0.00499	0	17	163		
GPLD1	2822	broad.mit.edu	37	6	24454389	24454389	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:24454389C>T	ENST00000230036.1	-	14	1299	c.1189G>A	c.(1189-1191)Gac>Aac	p.D397N		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	397					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ACCACGAGGTCACCGTGCCCA	0.612																																						uc003ned.1		NaN																	0				ovary(2)|kidney(1)	3						c.(1189-1191)GAC>AAC		glycosylphosphatidylinositol specific							80.0	62.0	68.0					6																	24454389		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24454389C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1189G>A	6.37:g.24454389C>T	ENSP00000230036:p.Asp397Asn					GPLD1_uc010jpr.1_Missense_Mutation_p.D234N|GPLD1_uc010jps.1_Missense_Mutation_p.D397N	p.D397N	NM_001503	NP_001494	P80108	PHLD_HUMAN			14	1300	-			397			FG-GAP 1.		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.1189G>A	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262706	0.59431	.	.	ENSG00000112293	ENST00000230036	D	0.96011	-3.88	5.44	4.56	0.56223	.	0.065363	0.64402	D	0.000008	D	0.98273	0.9428	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99107	1.0845	10	0.59425	D	0.04	-33.9167	15.412	0.74933	0.0:0.8599:0.1401:0.0	.	397	P80108	PHLD_HUMAN	N	397	ENSP00000230036:D397N	ENSP00000230036:D397N	D	-	1	0	GPLD1	24562368	0.998000	0.40836	0.449000	0.26957	0.003000	0.03518	4.810000	0.62598	1.393000	0.46605	0.655000	0.94253	GAC		0.612	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1		NM_001503		20	30	0	0	0	0.008871	0	20	30		
HIST1H2BI	8346	broad.mit.edu	37	6	26273432	26273432	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:26273432G>A	ENST00000377733.2	+	1	289	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	77					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77Q(2)|p.E77K(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CATTGCAGGCGAGGCTTCCCG	0.587																																						uc003nhk.2		NaN																	4	Substitution - Missense(4)		endometrium(2)|urinary_tract(1)|cervix(1)		0						c.(229-231)GAG>AAG		histone cluster 1, H2bi							127.0	124.0	125.0					6																	26273432		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273432G>A	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.229G>A	6.37:g.26273432G>A	ENSP00000366962:p.Glu77Lys					HIST1H3G_uc003nhi.2_5'Flank	p.E77K	NM_003525	NP_003516	P62807	H2B1C_HUMAN			1	229	+			77					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.229G>A	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	18.04	3.534816	0.64972	.	.	ENSG00000168242	ENST00000377733	T	0.34472	1.36	4.5	4.5	0.54988	.	.	.	.	.	T	0.62258	0.2413	H	0.95780	3.72	0.32958	D	0.52067	.	.	.	.	.	.	T	0.74244	-0.3728	7	0.54805	T	0.06	.	15.8093	0.78543	0.0:0.0:1.0:0.0	.	.	.	.	K	77	ENSP00000366962:E77K	ENSP00000366962:E77K	E	+	1	0	HIST1H2BI	26381411	1.000000	0.71417	0.999000	0.59377	0.033000	0.12548	7.542000	0.82095	2.058000	0.61347	0.563000	0.77884	GAG		0.587	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1		NM_003525		32	111	0	0	0	0.010818	0	32	111		
MOG	4340	broad.mit.edu	37	6	29641397	29641397	+	IGR	SNP	C	C	A	rs200541066	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:29641397C>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.R164L|ZFP57_ENST00000376883.1_Missense_Mutation_p.R144L|ZFP57_ENST00000376881.3_Missense_Mutation_p.R144L	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTGAAGCACCCGGGTCCTGTC	0.572																																						uc011dlw.1		NaN																	0				ovary(3)|skin(2)	5						c.(490-492)CGG>CTG		zinc finger protein 57 homolog							78.0	87.0	84.0					6																	29641397		1167	2510	3677	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641397C>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641397C>A						ZFP57_uc003nnl.3_Missense_Mutation_p.R144L	p.R164L	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	642	-			80			KRAB.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.491G>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	c	3.312	-0.140615	0.06669	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05580	3.42;3.64;3.64	3.36	-3.73	0.04398	.	0.753424	0.10910	N	0.620697	T	0.00815	0.0027	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.45775	-0.9238	10	0.32370	T	0.25	0.2209	3.2844	0.06926	0.0874:0.3646:0.1792:0.3687	.	164;144	Q9NU63-3;Q9NU63-2	.;.	L	164;144;144	ENSP00000418259:R164L;ENSP00000366078:R144L;ENSP00000366080:R144L	ENSP00000366078:R144L	R	-	2	0	ZFP57	29749376	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.162000	0.16501	-1.298000	0.02348	-4.481000	0.00005	CGG		0.572	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3		NM_002433		13	187	1	0	5.50884e-06	0.013537	6.12093e-06	13	187		
ABHD16A	7920	broad.mit.edu	37	6	31668761	31668761	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:31668761C>G	ENST00000395952.3	-	4	463	c.301G>C	c.(301-303)Ggg>Cgg	p.G101R	ABHD16A_ENST00000538874.1_Silent_p.L2L|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_5'UTR|MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000440843.2_Missense_Mutation_p.G68R	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	101						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGCAATGTCCCAGCATAGTGA	0.507																																						uc003nvy.1		NaN																	0					0						c.(301-303)GGG>CGG		HLA-B associated transcript 5							109.0	94.0	99.0					6																	31668761		2203	4300	6503	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31668761C>G	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.301G>C	6.37:g.31668761C>G	ENSP00000379282:p.Gly101Arg					BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Missense_Mutation_p.G68R|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Silent_p.L2L	p.G101R	NM_021160	NP_066983	O95870	ABHGA_HUMAN			4	331	-			101			Helical; (Potential).		A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.301G>C	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116070	0.77323	.	.	ENSG00000204427	ENST00000395952;ENST00000440843	.	.	.	5.13	5.13	0.70059	.	0.113565	0.64402	D	0.000013	T	0.62768	0.2455	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.70227	0.968;0.834	T	0.65455	-0.6164	9	0.59425	D	0.04	-25.4145	12.2026	0.54335	0.0:0.8279:0.1721:0.0	.	68;101	B7Z4R6;O95870	.;ABHGA_HUMAN	R	101;68	.	ENSP00000379282:G101R	G	-	1	0	ABHD16A	31776740	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	4.353000	0.59411	2.547000	0.85894	0.491000	0.48974	GGG		0.507	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4				11	60	0	0	0	0.013537	0	11	60		
FKBP5	2289	broad.mit.edu	37	6	35588041	35588041	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:35588041G>C	ENST00000539068.1	-	4	463	c.261C>G	c.(259-261)atC>atG	p.I87M	FKBP5_ENST00000536438.1_Missense_Mutation_p.I87M|FKBP5_ENST00000542713.1_Missense_Mutation_p.I87M|FKBP5_ENST00000357266.4_Missense_Mutation_p.I87M|FKBP5_ENST00000540787.1_Intron	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	87	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CCCATGCCTTGATGACTTGGC	0.403																																						uc011dte.1		NaN																	0				ovary(1)	1						c.(259-261)ATC>ATG		FK506 binding protein 5 isoform 1							130.0	109.0	116.0					6																	35588041		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35588041G>C	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.261C>G	6.37:g.35588041G>C	ENSP00000441205:p.Ile87Met					FKBP5_uc003okx.2_Missense_Mutation_p.I87M|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.I87M|FKBP5_uc003okz.2_Missense_Mutation_p.I87M	p.I87M	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN			4	464	-			87			PPIase FKBP-type 1.		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.261C>G	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155340	0.57259	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.71	5.71	0.89125	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.062052	0.64402	D	0.000005	D	0.85660	0.5748	H	0.98721	4.31	0.54753	D	0.999985	D;D	0.89917	1.0;0.972	D;D	0.79108	0.992;0.922	D	0.90026	0.4131	10	0.56958	D	0.05	-1.7019	14.7398	0.69445	0.0:0.0:0.8554:0.1446	.	87;87	F5H7R1;Q13451	.;FKBP5_HUMAN	M	87;87;87;87;50;87;85	ENSP00000444810:I87M;ENSP00000349811:I87M;ENSP00000441205:I87M;ENSP00000442340:I87M	ENSP00000338160:I87M	I	-	3	3	FKBP5	35696019	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.856000	0.39389	2.704000	0.92352	0.644000	0.83932	ATC		0.403	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2				40	41	0	0	0	0.009718	0	40	41		
CCND3	896	broad.mit.edu	37	6	41908297	41908297	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:41908297C>G	ENST00000372991.4	-	2	423	c.225G>C	c.(223-225)gaG>gaC	p.E75D	CCND3_ENST00000510503.1_5'UTR|CCND3_ENST00000372987.4_Missense_Mutation_p.E25D|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372988.4_5'UTR|CCND3_ENST00000511642.1_5'UTR	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	75	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAAGACTTCCTCCTCACAGC	0.647			T	IGH@	MM																																	uc003orn.2		NaN		Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		0					0						c.(223-225)GAG>GAC		cyclin D3 isoform 2							79.0	74.0	75.0					6																	41908297		2203	4300	6503	SO:0001583	missense	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41908297C>G		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.225G>C	6.37:g.41908297C>G	ENSP00000362082:p.Glu75Asp					CCND3_uc003orp.2_5'UTR|CCND3_uc011duk.1_Intron|CCND3_uc011dum.1_5'UTR|CCND3_uc003orm.2_Missense_Mutation_p.E25D|CCND3_uc003oro.2_Intron|CCND3_uc011dul.1_Intron	p.E75D	NM_001760	NP_001751	P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		2	390	-	Colorectal(47;0.121)		75			Cyclin N-terminal.		B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	37	c.225G>C	CCDS4863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.77|13.77	2.335604|2.335604	0.41398|0.41398	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000372991;ENST00000372987;ENST00000514588|ENST00000512426	T;T;T|.	0.11604|.	2.76;2.76;2.76|.	4.39|4.39	2.56|2.56	0.30785|0.30785	Cyclin, N-terminal (2);Cyclin-like (3);|.	0.000000|.	0.52532|.	D|.	0.000066|.	T|T	0.29190|0.29190	0.0726|0.0726	L|L	0.33293|0.33293	1|1	0.80722|0.80722	D|D	1|1	B;D|.	0.55605|.	0.005;0.972|.	B;D|.	0.68765|.	0.01;0.96|.	T|T	0.06570|0.06570	-1.0819|-1.0819	10|5	0.33141|.	T|.	0.24|.	.|.	8.2187|8.2187	0.31528|0.31528	0.0:0.742:0.0:0.258|0.0:0.742:0.0:0.258	.|.	75;25|.	P30281;Q5T8J1|.	CCND3_HUMAN;.|.	D|T	75;25;25|10	ENSP00000362082:E75D;ENSP00000362078:E25D;ENSP00000420991:E25D|.	ENSP00000362078:E25D|.	E|R	-|-	3|2	2|0	CCND3|CCND3	42016275|42016275	0.940000|0.940000	0.31905|0.31905	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.088000|0.088000	0.14979|0.14979	1.067000|1.067000	0.40740|0.40740	0.561000|0.561000	0.74099|0.74099	GAG|AGG		0.647	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2		NM_001760		37	38	0	0	0	0.005524	0	37	38		
KLHDC3	116138	broad.mit.edu	37	6	42985893	42985893	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:42985893T>G	ENST00000326974.4	+	5	653	c.458T>G	c.(457-459)tTt>tGt	p.F153C	KLHDC3_ENST00000332245.8_Missense_Mutation_p.F94C|KLHDC3_ENST00000244670.8_Missense_Mutation_p.F19C	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	153					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCGGACTGTTTTTCCAATGAC	0.473																																						uc003otl.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(457-459)TTT>TGT		kelch domain containing 3							161.0	144.0	150.0					6																	42985893		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42985893T>G	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.458T>G	6.37:g.42985893T>G	ENSP00000313995:p.Phe153Cys					KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Intron|KLHDC3_uc003otn.2_Missense_Mutation_p.F37C|KLHDC3_uc003oto.2_Missense_Mutation_p.F94C	p.F153C	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		5	627	+			153			Kelch 3.		A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.458T>G	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.716415	0.68844	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.66460	2.23;-0.21;2.23	5.25	5.25	0.73442	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.66560	2.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.996;1.0	T	0.79931	-0.1595	10	0.87932	D	0	.	15.1511	0.72700	0.0:0.0:0.0:1.0	.	94;19;153	E7ERR0;F8W6A4;Q9BQ90	.;.;KLDC3_HUMAN	C	153;153;19;153;126;94	ENSP00000313995:F153C;ENSP00000244670:F19C;ENSP00000331562:F94C	ENSP00000244670:F19C	F	+	2	0	KLHDC3	43093871	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.717000	0.84732	1.996000	0.58369	0.459000	0.35465	TTT		0.473	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1		NM_057161		62	38	0	0	0	0.01441	0	62	38		
SLC29A1	2030	broad.mit.edu	37	6	44201158	44201158	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:44201158G>C	ENST00000393841.1	+	14	1755	c.1264G>C	c.(1264-1266)Gtg>Ctg	p.V422L	SLC29A1_ENST00000393844.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V422L|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V501L|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V422L|SLC29A1_ENST00000427851.2_Missense_Mutation_p.V422L	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	422					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GCTTAGGAAAGTGAAGCCAGC	0.597																																						uc003owu.1		NaN																	0				large_intestine(2)|skin(1)	3						c.(1264-1266)GTG>CTG		equilibrative nucleoside transporter 1	Troglitazone(DB00197)						132.0	129.0	130.0					6																	44201158		2203	4300	6503	SO:0001583	missense	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44201158G>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1264G>C	6.37:g.44201158G>C	ENSP00000377424:p.Val422Leu					SLC29A1_uc003owv.1_Missense_Mutation_p.V422L|SLC29A1_uc003oww.1_Missense_Mutation_p.V501L|SLC29A1_uc003owx.1_Missense_Mutation_p.V422L|SLC29A1_uc003owy.1_Missense_Mutation_p.V422L|SLC29A1_uc003owz.1_Missense_Mutation_p.V422L	p.V422L	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		13	1593	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		422			Cytoplasmic (Potential).		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.1264G>C	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129366	0.77549	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.36	4.47	0.54385	.	0.068452	0.64402	N	0.000017	D	0.89653	0.6777	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92232	0.5793	10	0.87932	D	0	-24.9169	15.4029	0.74855	0.0:0.0:0.8599:0.1401	.	501;422	B3KQV7;Q99808	.;S29A1_HUMAN	L	422;501;422;422;422;422;422;422;422;422	ENSP00000377427:V422L;ENSP00000319152:V501L;ENSP00000392668:V422L;ENSP00000360820:V422L;ENSP00000360805:V422L;ENSP00000360796:V422L;ENSP00000377424:V422L;ENSP00000360789:V422L;ENSP00000360778:V422L;ENSP00000360773:V422L	ENSP00000319152:V501L	V	+	1	0	SLC29A1	44309136	1.000000	0.71417	0.996000	0.52242	0.589000	0.36550	8.800000	0.91900	1.444000	0.47605	0.655000	0.94253	GTG		0.597	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1				38	125	0	0	0	0.010771	0	38	125		
DST	667	broad.mit.edu	37	6	56458781	56458781	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:56458781A>T	ENST00000361203.3	-	44	11780	c.11773T>A	c.(11773-11775)Tta>Ata	p.L3925I	DST_ENST00000244364.6_Missense_Mutation_p.L1513I|DST_ENST00000370769.4_Missense_Mutation_p.L3927I|DST_ENST00000421834.2_Missense_Mutation_p.L1839I|DST_ENST00000370788.2_Missense_Mutation_p.L1839I|DST_ENST00000370754.5_Missense_Mutation_p.L4105I|DST_ENST00000446842.2_Missense_Mutation_p.L3601I|DST_ENST00000312431.6_Missense_Mutation_p.L3925I			Q03001	DYST_HUMAN	dystonin	3925					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTTTTCTAATTCTTCCTGC	0.423																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6049-6051)TTA>ATA		dystonin isoform 2							85.0	77.0	79.0					6																	56458781		1903	4121	6024	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458781A>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11773T>A	6.37:g.56458781A>T	ENSP00000354508:p.Leu3925Ile					DST_uc003pcz.3_Missense_Mutation_p.L1839I|DST_uc011dxj.1_Missense_Mutation_p.L1868I|DST_uc011dxk.1_Missense_Mutation_p.L1879I|DST_uc003pcy.3_Missense_Mutation_p.L1513I|DST_uc010kaa.1_RNA	p.L2017I	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		42	6077	-	Lung NSC(77;0.103)		3925			Spectrin 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6049T>A		.	.	.	.	.	.	.	.	.	.	A	14.64	2.594292	0.46214	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.44	-2.33	0.06724	.	0.000000	0.38548	N	0.001646	T	0.49321	0.1550	M	0.80746	2.51	0.24973	N	0.991652	D;D;D;B;P	0.62365	0.991;0.987;0.987;0.262;0.87	P;D;D;B;P	0.69307	0.902;0.963;0.963;0.285;0.728	T	0.61178	-0.7115	9	0.52906	T	0.07	.	13.796	0.63171	0.4578:0.0:0.5422:0.0	.	1839;3927;4105;3925;1513	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	I	1513;4105;3927;1839;3601;3925;1839;3925	ENSP00000244364:L1513I;ENSP00000359790:L4105I;ENSP00000359805:L3927I;ENSP00000400883:L1839I;ENSP00000393645:L3601I;ENSP00000307959:L3925I;ENSP00000359824:L1839I;ENSP00000354508:L3925I	ENSP00000244364:L1513I	L	-	1	2	DST	56566740	1.000000	0.71417	0.041000	0.18516	0.837000	0.47467	1.481000	0.35476	-0.340000	0.08388	0.528000	0.53228	TTA		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		42	45	0	0	0	0.00874	0	42	45		
TFB1M	51106	broad.mit.edu	37	6	155619653	155619653	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:155619653C>G	ENST00000367166.4	-	3	407	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AAAGCCTTTTCTACCTTAAAT	0.338																																						uc003qqj.3		NaN																	0				skin(1)	1						c.(352-354)GAA>CAA		transcription factor B1, mitochondrial							86.0	84.0	85.0					6																	155619653		2203	4300	6503	SO:0001583	missense	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155619653C>G	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.352G>C	6.37:g.155619653C>G	ENSP00000356134:p.Glu118Gln					TFB1M_uc003qqk.2_Intron	p.E118Q	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	3	416	-		Ovarian(120;0.196)	118					Q05DR0|Q9Y384	Missense_Mutation	SNP	ENST00000367166.4	37	c.352G>C	CCDS5248.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556399	0.65425	.	.	ENSG00000029639	ENST00000367166	T	0.32515	1.45	5.65	5.65	0.86999	Ribosomal RNA adenine methylase transferase, N-terminal (1);	0.142485	0.64402	D	0.000006	T	0.22244	0.0536	L	0.56396	1.775	0.58432	D	0.999999	B	0.28258	0.205	B	0.29077	0.098	T	0.03344	-1.1046	10	0.23891	T	0.37	-25.2024	20.0781	0.97751	0.0:1.0:0.0:0.0	.	118	Q8WVM0	TFB1M_HUMAN	Q	118	ENSP00000356134:E118Q	ENSP00000356134:E118Q	E	-	1	0	TFB1M	155661345	1.000000	0.71417	0.759000	0.31340	0.897000	0.52465	7.194000	0.77789	2.817000	0.96982	0.563000	0.77884	GAA		0.338	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1				20	19	0	0	0	0.01892	0	20	19		
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:170871088G>A	ENST00000392092.2	+	3	543	c.264G>A	c.(262-264)caG>caA	p.Q88Q	TBP_ENST00000230354.6_Silent_p.Q88Q|TBP_ENST00000540980.1_Silent_p.Q68Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	88	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q88Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612																																						uc003qxt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(262-264)CAG>CAA		TATA box binding protein																																				SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871088G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.264G>A	6.37:g.170871088G>A						TBP_uc003qxu.2_Silent_p.Q88Q|TBP_uc011ehf.1_Silent_p.Q68Q|TBP_uc011ehg.1_Silent_p.Q88Q	p.Q88Q	NM_003194	NP_003185	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	496	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	88			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.264G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2		NM_003194		4	20	0	0	0	0.014758	0	4	20		
MEOX2	4223	broad.mit.edu	37	7	15725691	15725691	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:15725691C>T	ENST00000262041.5	-	1	746	c.337G>A	c.(337-339)Gac>Aac	p.D113N	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	113					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCTCCAGAGTCGGGCTGGAGG	0.692																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(337-339)GAC>AAC		mesenchyme homeobox 2							10.0	13.0	12.0					7																	15725691		2181	4256	6437	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725691C>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.337G>A	7.37:g.15725691C>T	ENSP00000262041:p.Asp113Asn					MEOX2_uc011jxw.1_Missense_Mutation_p.D113N	p.D113N	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	618	-			113					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.337G>A	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920776	0.52653	.	.	ENSG00000106511	ENST00000262041	D	0.89485	-2.52	5.43	5.43	0.79202	.	0.253224	0.39407	N	0.001366	D	0.82360	0.5020	L	0.36672	1.1	0.46678	D	0.999152	P	0.36438	0.553	B	0.22601	0.04	T	0.80859	-0.1194	10	0.23891	T	0.37	-21.0003	19.2402	0.93879	0.0:1.0:0.0:0.0	.	113	P50222	MEOX2_HUMAN	N	113	ENSP00000262041:D113N	ENSP00000262041:D113N	D	-	1	0	MEOX2	15692216	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	5.001000	0.63946	2.533000	0.85409	0.655000	0.94253	GAC		0.692	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2		NM_005924		7	6	0	0	0	0.001984	0	7	6		
AOAH	313	broad.mit.edu	37	7	36671706	36671706	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:36671706A>C	ENST00000258749.5	-	6	856	c.457T>G	c.(457-459)Tct>Gct	p.S153A	AOAH_ENST00000535891.1_Missense_Mutation_p.S121A|AOAH_ENST00000431169.1_Missense_Mutation_p.S153A	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	153					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CCACTTCTAGAATATTTCTGG	0.393																																						uc003tfh.3		NaN																	0				skin(1)	1						c.(457-459)TCT>GCT		acyloxyacyl hydrolase precursor							33.0	36.0	35.0					7																	36671706		2202	4300	6502	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36671706A>C	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.457T>G	7.37:g.36671706A>C	ENSP00000258749:p.Ser153Ala					AOAH_uc010kxf.2_Missense_Mutation_p.S153A|AOAH_uc011kba.1_Missense_Mutation_p.S121A	p.S153A	NM_001637	NP_001628	P28039	AOAH_HUMAN			6	858	-			153					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.457T>G	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	A	3.724	-0.056875	0.07362	.	.	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T	0.77098	1.96;-1.03;-1.07	4.81	-5.88	0.02290	.	1.386340	0.04217	N	0.332904	T	0.50871	0.1641	.	.	.	0.09310	N	1	B;B;B	0.21753	0.015;0.06;0.035	B;B;B	0.19946	0.007;0.008;0.027	T	0.49670	-0.8915	9	0.07175	T	0.84	.	6.5394	0.22372	0.491:0.0:0.3935:0.1155	.	121;153;153	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	A	121;153;153;153	ENSP00000441101:S121A;ENSP00000258749:S153A;ENSP00000405683:S153A	ENSP00000258749:S153A	S	-	1	0	AOAH	36638231	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-0.960000	0.03849	-0.907000	0.03862	0.533000	0.62120	TCT		0.393	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2		NM_001637		6	12	0	0	0	0.001984	0	6	12		
GLI3	2737	broad.mit.edu	37	7	42005045	42005045	+	Missense_Mutation	SNP	G	G	A	rs376682835		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:42005045G>A	ENST00000395925.3	-	15	3710	c.3626C>T	c.(3625-3627)cCt>cTt	p.P1209L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1209					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCCCCAGCAGGCCCGCTCCT	0.652									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3625-3627)CCT>CTT		GLI-Kruppel family member GLI3		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	45.0	54.0	51.0		3626	-1.2	0.0	7		51	0,8600		0,0,4300	no	missense	GLI3	NM_000168.5	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1209/1581	42005045	1,13005	2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005045G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3626C>T	7.37:g.42005045G>A	ENSP00000379258:p.Pro1209Leu					GLI3_uc011kbg.1_Missense_Mutation_p.P1150L	p.P1209L	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3717	-			1209					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3626C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505108	0.26949	2.27E-4	0.0	ENSG00000106571	ENST00000395925	T	0.12984	2.63	5.59	-1.16	0.09678	.	0.255520	0.37304	N	0.002145	T	0.07863	0.0197	L	0.39147	1.195	0.41422	D	0.987801	B	0.02656	0.0	B	0.04013	0.001	T	0.34279	-0.9835	10	0.09084	T	0.74	.	6.6371	0.22889	0.2109:0.0:0.4817:0.3074	.	1209	P10071	GLI3_HUMAN	L	1209	ENSP00000379258:P1209L	ENSP00000379258:P1209L	P	-	2	0	GLI3	41971570	0.873000	0.30073	0.030000	0.17652	0.023000	0.10783	1.087000	0.30865	0.048000	0.15891	0.655000	0.94253	CCT		0.652	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		4	104	0	0	0	0.009096	0	4	104		
ABCA13	154664	broad.mit.edu	37	7	48308595	48308595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:48308595C>T	ENST00000435803.1	+	16	2048	c.2024C>T	c.(2023-2025)cCt>cTt	p.P675L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	675					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGGAATCTCCTTGTTTTGAA	0.289																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(2023-2025)CCT>CTT		ATP binding cassette, sub-family A (ABC1),							39.0	37.0	38.0					7																	48308595		1789	4052	5841	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48308595C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2024C>T	7.37:g.48308595C>T	ENSP00000411096:p.Pro675Leu					ABCA13_uc010kyr.2_Missense_Mutation_p.P178L	p.P675L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			16	2049	+			675					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2024C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935040	0.34189	.	.	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	4.3	3.39	0.38822	.	0.137778	0.33631	N	0.004712	T	0.80243	0.4587	L	0.46157	1.445	0.80722	D	1	P	0.37015	0.578	B	0.34536	0.185	T	0.81226	-0.1029	10	0.87932	D	0	.	7.4107	0.27016	0.0:0.8796:0.0:0.1204	.	675	Q86UQ4	ABCAD_HUMAN	L	675	ENSP00000411096:P675L	ENSP00000411096:P675L	P	+	2	0	ABCA13	48279141	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	2.101000	0.41787	2.095000	0.63458	0.591000	0.81541	CCT		0.289	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		5	27	0	0	0	0.014758	0	5	27		
AUTS2	26053	broad.mit.edu	37	7	69364285	69364285	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:69364285T>G	ENST00000342771.4	+	2	644	c.323T>G	c.(322-324)cTt>cGt	p.L108R	AUTS2_ENST00000403018.2_Missense_Mutation_p.L108R|AUTS2_ENST00000406775.2_Missense_Mutation_p.L108R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	108										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GATGTAGCACTTAAGCCTCAG	0.443																																						uc003tvw.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(322-324)CTT>CGT		autism susceptibility candidate 2 isoform 1							70.0	65.0	67.0					7																	69364285		2203	4300	6503	SO:0001583	missense	26053							g.chr7:69364285T>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.323T>G	7.37:g.69364285T>G	ENSP00000344087:p.Leu108Arg					AUTS2_uc003tvv.3_Missense_Mutation_p.L108R|AUTS2_uc003tvx.3_Missense_Mutation_p.L108R	p.L108R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	2	1066	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	108					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.323T>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292315	0.59976	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.53423	0.68;0.62	5.65	5.65	0.86999	.	0.000000	0.51477	D	0.000100	T	0.59238	0.2179	L	0.46157	1.445	0.35213	D	0.775359	P;P;D	0.63046	0.741;0.741;0.992	P;P;P	0.61800	0.654;0.654;0.894	T	0.66101	-0.6007	9	.	.	.	-13.8791	16.0399	0.80667	0.0:0.0:0.0:1.0	.	108;108;108	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	R	108	ENSP00000385263:L108R;ENSP00000344087:L108R	.	L	+	2	0	AUTS2	69002221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.812000	0.55628	2.371000	0.80710	0.533000	0.62120	CTT		0.443	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2				11	41	0	0	0	0.010729	0	11	41		
DNAJC30	84277	broad.mit.edu	37	7	73097379	73097379	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:73097379G>A	ENST00000395176.2	-	1	404	c.375C>T	c.(373-375)gtC>gtT	p.V125V	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	125						mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						TGGAGGGCCGGACGCCAGGTC	0.741																																						uc003tys.1		NaN																	0					0						c.(373-375)GTC>GTT		DnaJ (Hsp40) homolog subfamily C member 30							14.0	16.0	15.0					7																	73097379		2192	4276	6468	SO:0001819	synonymous_variant	84277				protein folding		heat shock protein binding|unfolded protein binding	g.chr7:73097379G>A	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.375C>T	7.37:g.73097379G>A						WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	p.V125V	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN			1	403	-			125					Q9BSG8	Silent	SNP	ENST00000395176.2	37	c.375C>T	CCDS5556.1																																																																																				0.741	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2				9	14	0	0	0	0.004482	0	9	14		
HIP1	3092	broad.mit.edu	37	7	75178216	75178216	+	Silent	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:75178216A>T	ENST00000336926.6	-	23	2405	c.2379T>A	c.(2377-2379)gcT>gcA	p.A793A	HIP1_ENST00000434438.2_Silent_p.A793A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	793	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGTTTCAATAGCAGCTGAAG	0.552			T	PDGFRB	CMML																																	uc003uds.1		NaN		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2377-2379)GCT>GCA		huntingtin interacting protein 1							218.0	206.0	210.0					7																	75178216		2203	4300	6503	SO:0001819	synonymous_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75178216A>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2379T>A	7.37:g.75178216A>T						HIP1_uc011kfz.1_Silent_p.A670A	p.A793A	NM_005338	NP_005329	O00291	HIP1_HUMAN			23	2420	-			793			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	c.2379T>A	CCDS34669.1																																																																																				0.552	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2		NM_005338		59	139	0	0	0	0.01441	0	59	139		
HIP1	3092	broad.mit.edu	37	7	75178225	75178225	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:75178225A>C	ENST00000336926.6	-	23	2396	c.2370T>G	c.(2368-2370)acT>acG	p.T790T	HIP1_ENST00000434438.2_Silent_p.T790T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	790	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TAGCAGCTGAAGTGGCCGCCA	0.567			T	PDGFRB	CMML																																	uc003uds.1		NaN		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2368-2370)ACT>ACG		huntingtin interacting protein 1							214.0	200.0	205.0					7																	75178225		2203	4300	6503	SO:0001819	synonymous_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75178225A>C	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2370T>G	7.37:g.75178225A>C						HIP1_uc011kfz.1_Silent_p.T667T	p.T790T	NM_005338	NP_005329	O00291	HIP1_HUMAN			23	2411	-			790			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	c.2370T>G	CCDS34669.1																																																																																				0.567	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2		NM_005338		62	134	0	0	0	0.01441	0	62	134		
SEMA3D	223117	broad.mit.edu	37	7	84751131	84751131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:84751131C>T	ENST00000284136.6	-	1	120	c.77G>A	c.(76-78)aGc>aAc	p.S26N	SEMA3D_ENST00000444867.1_Missense_Mutation_p.S26N	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	26					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CATGGTCATGCTTAGCATCAT	0.333																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.(76-78)AGC>AAC		semaphorin 3D precursor							106.0	104.0	105.0					7																	84751131		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84751131C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.77G>A	7.37:g.84751131C>T	ENSP00000284136:p.Ser26Asn					SEMA3D_uc010led.2_Missense_Mutation_p.S26N|SEMA3D_uc010lee.1_Missense_Mutation_p.S26N	p.S26N	NM_152754	NP_689967	O95025	SEM3D_HUMAN			1	117	-			26					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.77G>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624625	0.28889	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.30981	1.52;1.51	5.72	2.8	0.32819	.	1.971160	0.01887	N	0.038283	T	0.28101	0.0693	L	0.36672	1.1	0.25373	N	0.988684	B;B	0.21381	0.055;0.021	B;B	0.16722	0.009;0.016	T	0.20672	-1.0268	10	0.27785	T	0.31	.	8.7457	0.34585	0.2884:0.4477:0.2639:0.0	.	26;26	C9JYT6;O95025	.;SEM3D_HUMAN	N	26	ENSP00000284136:S26N;ENSP00000401366:S26N	ENSP00000284136:S26N	S	-	2	0	SEMA3D	84589067	0.878000	0.30173	0.641000	0.29422	0.897000	0.52465	1.587000	0.36622	0.361000	0.24292	0.650000	0.86243	AGC		0.333	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754		12	24	0	0	0	0.006122	0	12	24		
KIAA1324L	222223	broad.mit.edu	37	7	86554951	86554951	+	Missense_Mutation	SNP	C	C	A	rs377509398		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:86554951C>A	ENST00000450689.2	-	10	1477	c.1292G>T	c.(1291-1293)gGa>gTa	p.G431V	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G431V|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G264V|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G191V	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	431						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGGCTCCGTTCCTGCTGGACA	0.418																																						uc011kha.1		NaN																	0				ovary(6)|skin(1)	7						c.(1291-1293)GGA>GTA		hypothetical protein LOC222223 isoform 1							117.0	107.0	110.0					7																	86554951		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86554951C>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1292G>T	7.37:g.86554951C>A	ENSP00000413445:p.Gly431Val					KIAA1324L_uc003uif.1_Missense_Mutation_p.G191V|KIAA1324L_uc011kgz.1_Missense_Mutation_p.G317V|KIAA1324L_uc003uie.2_Missense_Mutation_p.G264V	p.G431V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			10	1477	-	Esophageal squamous(14;0.0058)		431			Extracellular (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.1292G>T	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.01|18.01	3.526887|3.526887	0.64860|0.64860	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78355|0.78355	0.4270|0.4270	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	T|T	0.77264|0.77264	-0.2652|-0.2652	10|5	0.87932|.	D|.	0|.	.|.	19.0983|19.0983	0.93263|0.93263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	431;191;264|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	V|S	431;191;431;264|391	ENSP00000413445:G431V;ENSP00000297222:G191V;ENSP00000397377:G431V;ENSP00000402390:G264V|.	ENSP00000297222:G191V|.	G|R	-|-	2|3	0|2	KIAA1324L|KIAA1324L	86392887|86392887	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.089000|0.089000	0.18198|0.18198	7.793000|7.793000	0.85851|0.85851	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.418	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3		NM_152748		16	48	1	0	2.32078e-09	0.003163	2.61832e-09	16	48		
PTCD1	26024	broad.mit.edu	37	7	99032712	99032712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:99032712G>A	ENST00000292478.4	-	2	404	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000555673.1_Nonsense_Mutation_p.Q101*|PTCD1_ENST00000485746.1_5'Flank|ATP5J2-PTCD1_ENST00000413834.1_Nonsense_Mutation_p.Q101*	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	52					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGGGGCAGCTGAGAGGAGGAG	0.657																																						uc003uqh.2		NaN																	0				ovary(1)	1						c.(154-156)CAG>TAG		pentatricopeptide repeat domain 1							25.0	27.0	26.0					7																	99032712		2203	4300	6503	SO:0001587	stop_gained	26024							g.chr7:99032712G>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.154C>T	7.37:g.99032712G>A	ENSP00000292478:p.Gln52*					PTCD1_uc011kiw.1_Nonsense_Mutation_p.Q101*	p.Q52*	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	285	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		52					Q3ZB78|Q66K60|Q9UDV2	Nonsense_Mutation	SNP	ENST00000292478.4	37	c.154C>T	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053620	0.36277	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000437572;ENST00000413834	.	.	.	5.51	4.54	0.55810	.	0.501510	0.19622	N	0.109881	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.6252	12.4383	0.55612	0.0:0.0:0.7888:0.2112	.	.	.	.	X	52;101;52;52;52;52;101	.	ENSP00000400168:Q101X	Q	-	1	0	ATP5J2-PTCD1;PTCD1	98870648	0.001000	0.12720	0.619000	0.29118	0.190000	0.23558	0.731000	0.26058	2.590000	0.87494	0.563000	0.77884	CAG		0.657	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1		NM_015545		20	18	0	0	0	0.007413	0	20	18		
RELN	5649	broad.mit.edu	37	7	103214579	103214579	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:103214579T>C	ENST00000428762.1	-	30	4630	c.4471A>G	c.(4471-4473)Agg>Ggg	p.R1491G	RELN_ENST00000424685.2_Missense_Mutation_p.R1491G|RELN_ENST00000343529.5_Missense_Mutation_p.R1491G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1491					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGGGCTTCCCTTTTCCCAGGG	0.468																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4471-4473)AGG>GGG		reelin isoform a							130.0	127.0	128.0					7																	103214579		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103214579T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4471A>G	7.37:g.103214579T>C	ENSP00000392423:p.Arg1491Gly					RELN_uc010liz.2_Missense_Mutation_p.R1491G	p.R1491G	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	30	4631	-			1491					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4471A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128725	0.77549	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.47177	1.08;0.85;1.08	5.62	4.39	0.52855	.	0.127127	0.64402	D	0.000005	T	0.63581	0.2523	M	0.78344	2.41	0.46798	D	0.999207	P;D	0.64830	0.83;0.994	P;P	0.58266	0.664;0.836	T	0.69363	-0.5165	10	0.87932	D	0	.	12.6561	0.56788	0.0:0.0:0.1377:0.8623	.	1491;1491	P78509-2;P78509	.;RELN_HUMAN	G	1491	ENSP00000392423:R1491G;ENSP00000345694:R1491G;ENSP00000388446:R1491G	ENSP00000345694:R1491G	R	-	1	2	RELN	103001815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.433000	0.34947	2.266000	0.75297	0.533000	0.62120	AGG		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		3	119	0	0	0	0.009096	0	3	119		
CBLL1	79872	broad.mit.edu	37	7	107398668	107398668	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:107398668G>A	ENST00000440859.3	+	6	988	c.521G>A	c.(520-522)aGa>aAa	p.R174K	CBLL1_ENST00000222597.2_Missense_Mutation_p.R173K|CBLL1_ENST00000415884.2_3'UTR	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	174	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GGGTGCAAGAGAACATATTTG	0.433																																						uc003veq.2		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(520-522)AGA>AAA		Cas-Br-M (murine) ecotropic retroviral							135.0	118.0	124.0					7																	107398668		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107398668G>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.521G>A	7.37:g.107398668G>A	ENSP00000401277:p.Arg174Lys					CBLL1_uc011kme.1_Missense_Mutation_p.R53K|CBLL1_uc011kmf.1_Missense_Mutation_p.R173K	p.R174K	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN			6	851	+			174			C2H2-type.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.521G>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441300	0.83993	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.45668	0.89;0.9;1.03	5.14	5.14	0.70334	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.58669	1.825	0.80722	D	1	D;D	0.61697	0.99;0.974	D;D	0.72982	0.979;0.969	T	0.65352	-0.6189	10	0.87932	D	0	-2.4344	18.9708	0.92713	0.0:0.0:1.0:0.0	.	173;174	B7ZM03;Q75N03	.;HAKAI_HUMAN	K	174;53;173;124;120	ENSP00000401277:R174K;ENSP00000222597:R173K;ENSP00000410615:R124K	ENSP00000222597:R173K	R	+	2	0	CBLL1	107185904	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.543000	0.98089	2.558000	0.86282	0.655000	0.94253	AGA		0.433	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2		NM_024814		15	52	0	0	0	0.004007	0	15	52		
GRM8	2918	broad.mit.edu	37	7	126086316	126086316	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:126086316C>T	ENST00000339582.2	-	10	3349	c.2541G>A	c.(2539-2541)caG>caA	p.Q847Q	GRM8_ENST00000358373.3_Silent_p.Q847Q|GRM8_ENST00000444921.2_Silent_p.Q847Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	847					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTTGAACATTCTGTTCTGGAT	0.423										HNSCC(24;0.065)																												uc003vlr.2		NaN																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2539-2541)CAG>CAA		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						120.0	112.0	114.0					7																	126086316		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126086316C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2541G>A	7.37:g.126086316C>T		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.Q847Q|GRM8_uc010lkz.1_RNA	p.Q847Q	NM_000845	NP_000836	O00222	GRM8_HUMAN			9	2852	-		Prostate(267;0.186)	847			Cytoplasmic (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2541G>A	CCDS5794.1																																																																																				0.423	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4				20	37	0	0	0	0.010504	0	20	37		
FLNC	2318	broad.mit.edu	37	7	128486934	128486934	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:128486934C>G	ENST00000325888.8	+	24	4524	c.4263C>G	c.(4261-4263)atC>atG	p.I1421M	FLNC_ENST00000346177.6_Missense_Mutation_p.I1421M	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1421					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACGTCAACATCACCTTCGGGG	0.602																																						uc003vnz.3		NaN																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(4261-4263)ATC>ATG		gamma filamin isoform a							75.0	78.0	77.0					7																	128486934		2028	4187	6215	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486934C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4263C>G	7.37:g.128486934C>G	ENSP00000327145:p.Ile1421Met					FLNC_uc003voa.3_Missense_Mutation_p.I1421M	p.I1421M	NM_001458	NP_001449	Q14315	FLNC_HUMAN			24	4472	+			1421			Filamin 12.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4263C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860682	0.51482	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88664	-2.41;-2.41	4.69	3.81	0.43845	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94328	0.8177	H	0.96111	3.77	0.43782	D	0.996316	P;B	0.36577	0.558;0.14	P;B	0.48270	0.572;0.167	D	0.94469	0.7683	10	0.72032	D	0.01	.	11.1804	0.48625	0.0:0.8442:0.0:0.1558	.	1421;1421	Q14315-2;Q14315	.;FLNC_HUMAN	M	1421	ENSP00000327145:I1421M;ENSP00000344002:I1421M	ENSP00000327145:I1421M	I	+	3	3	FLNC	128274170	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.128000	0.42045	1.104000	0.41587	0.561000	0.74099	ATC		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3				19	34	0	0	0	0.010504	0	19	34		
CALD1	800	broad.mit.edu	37	7	134643018	134643018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:134643018G>A	ENST00000361675.2	+	11	2267	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	CALD1_ENST00000361388.2_Missense_Mutation_p.E451K|CALD1_ENST00000424922.1_Missense_Mutation_p.E419K|CALD1_ENST00000393118.2_Missense_Mutation_p.E445K|CALD1_ENST00000422748.1_Missense_Mutation_p.E450K|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000417172.1_Missense_Mutation_p.E425K|CALD1_ENST00000543443.1_Missense_Mutation_p.E430K|CALD1_ENST00000495522.1_Missense_Mutation_p.E444K|CALD1_ENST00000361901.2_Missense_Mutation_p.E425K			Q05682	CALD1_HUMAN	caldesmon 1	680	Strong actin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CAGCAGACTGGAGCAGTATAC	0.388																																						uc003vrz.2		NaN																	0					0						c.(2038-2040)GAG>AAG		caldesmon 1 isoform 1							156.0	151.0	153.0					7																	134643018		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134643018G>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.2038G>A	7.37:g.134643018G>A	ENSP00000354826:p.Glu680Lys					CALD1_uc003vry.2_Missense_Mutation_p.E425K|CALD1_uc003vsa.2_Missense_Mutation_p.E451K|CALD1_uc003vsb.2_Missense_Mutation_p.E425K|CALD1_uc010lmm.2_Missense_Mutation_p.E450K|CALD1_uc011kpt.1_Missense_Mutation_p.E199K|CALD1_uc003vsc.2_Missense_Mutation_p.E445K|CALD1_uc003vsd.2_Missense_Mutation_p.E419K|CALD1_uc011kpu.1_Missense_Mutation_p.E430K|CALD1_uc011kpv.1_Missense_Mutation_p.E289K|CALD1_uc003vse.2_Missense_Mutation_p.E543K|CALD1_uc010lmn.2_5'Flank	p.E680K	NM_033138	NP_149129	Q05682	CALD1_HUMAN			11	2497	+			680			Strong actin-binding (By similarity).		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.2038G>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	36	5.708380	0.96821	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000432646;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.51	5.51	0.81932	.	0.000000	0.49305	D	0.000147	D	0.82875	0.5132	M	0.86343	2.81	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.998;0.998;0.995;0.998;0.999;0.996	D	0.85414	0.1139	10	0.72032	D	0.01	-25.9888	19.4213	0.94723	0.0:0.0:1.0:0.0	.	374;430;450;444;419;445;425;451;680;425	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	K	425;425;451;450;58;680;425;445;419;444;430	ENSP00000398826:E425K;ENSP00000411476:E425K;ENSP00000355000:E451K;ENSP00000395710:E450K;ENSP00000354826:E680K;ENSP00000354513:E425K;ENSP00000376826:E445K;ENSP00000393621:E419K;ENSP00000419673:E444K;ENSP00000445641:E430K	ENSP00000355000:E451K	E	+	1	0	CALD1	134293558	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.330000	0.96422	2.589000	0.87451	0.655000	0.94253	GAG		0.388	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1		NM_033138		59	49	0	0	0	0.01441	0	59	49		
UBN2	254048	broad.mit.edu	37	7	138936757	138936757	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:138936757G>C	ENST00000473989.3	+	3	617	c.617G>C	c.(616-618)gGc>gCc	p.G206A	UBN2_ENST00000288561.8_Missense_Mutation_p.G123A	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	206						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATTGATATAGGCTTTGGCTAT	0.383																																						uc011kqr.1		NaN																	0				ovary(1)|skin(1)	2						c.(616-618)GGC>GCC		ubinuclein 2							124.0	122.0	123.0					7																	138936757		1841	4079	5920	SO:0001583	missense	254048							g.chr7:138936757G>C	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.617G>C	7.37:g.138936757G>C	ENSP00000418648:p.Gly206Ala						p.G206A	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			3	617	+			206					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.617G>C	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936149	0.92458	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T	0.62498	0.1;0.02	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.78211	-0.2292	10	0.40728	T	0.16	-8.6682	18.7965	0.91995	0.0:0.0:1.0:0.0	.	206	Q6ZU65	UBN2_HUMAN	A	29;206;123	ENSP00000418648:G206A;ENSP00000288561:G123A	ENSP00000288561:G123A	G	+	2	0	UBN2	138587297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.852000	0.92215	2.671000	0.90904	0.655000	0.94253	GGC		0.383	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3		NM_173569		21	56	0	0	0	0.016522	0	21	56		
DNAJB6	10049	broad.mit.edu	37	7	157160089	157160089	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:157160089A>G	ENST00000262177.4	+	5	463	c.258A>G	c.(256-258)ccA>ccG	p.P86P	DNAJB6_ENST00000429029.2_Silent_p.P86P|DNAJB6_ENST00000452797.2_Silent_p.P37P|DNAJB6_ENST00000443280.1_Silent_p.P86P	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	86	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TTGACAGTCCATTTGAATTTG	0.363																																					Esophageal Squamous(46;195 967 1350 20350 43814)	uc003wnk.2		NaN																	0				ovary(2)	2						c.(256-258)CCA>CCG		DnaJ (Hsp40) homolog, subfamily B, member 6							163.0	150.0	155.0					7																	157160089		2203	4300	6503	SO:0001819	synonymous_variant	10049				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding	g.chr7:157160089A>G	AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.258A>G	7.37:g.157160089A>G						DNAJB6_uc003wnj.2_Silent_p.P86P|DNAJB6_uc003wnl.2_Silent_p.P73P|DNAJB6_uc011kvy.1_Silent_p.P37P|DNAJB6_uc011kvz.1_Silent_p.P86P|DNAJB6_uc010lqt.2_Silent_p.P86P	p.P86P	NM_058246	NP_490647	O75190	DNJB6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	5	412	+	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	86			Gly/Phe-rich.|Interaction with HSP70.		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Silent	SNP	ENST00000262177.4	37	c.258A>G	CCDS5946.1																																																																																				0.363	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2				39	55	0	0	0	0.009718	0	39	55		
KAT6A	7994	broad.mit.edu	37	8	41791525	41791525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:41791525C>T	ENST00000396930.3	-	18	4756	c.4213G>A	c.(4213-4215)Gag>Aag	p.E1405K	KAT6A_ENST00000265713.2_Missense_Mutation_p.E1405K|KAT6A_ENST00000406337.1_Missense_Mutation_p.E1405K	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1405					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCGATTAACTCTTCCTTAGTG	0.498																																						uc010lxb.2		NaN																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(4213-4215)GAG>AAG		MYST histone acetyltransferase (monocytic							111.0	101.0	105.0					8																	41791525		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791525C>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4213G>A	8.37:g.41791525C>T	ENSP00000380136:p.Glu1405Lys					MYST3_uc010lxc.2_Missense_Mutation_p.E1405K|MYST3_uc003xon.3_Missense_Mutation_p.E1405K	p.E1405K	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		18	4757	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1405					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4213G>A	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215062	0.39102	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.61158	0.13;0.13;0.13	5.71	5.71	0.89125	.	0.243838	0.35495	N	0.003164	T	0.52386	0.1731	N	0.08118	0	0.37290	D	0.908231	P	0.48640	0.913	P	0.55011	0.766	T	0.52586	-0.8556	10	0.14656	T	0.56	-14.2154	19.8408	0.96685	0.0:1.0:0.0:0.0	.	1405	Q92794	KAT6A_HUMAN	K	1405	ENSP00000265713:E1405K;ENSP00000385888:E1405K;ENSP00000380136:E1405K	ENSP00000265713:E1405K	E	-	1	0	KAT6A	41910682	1.000000	0.71417	0.994000	0.49952	0.092000	0.18411	2.714000	0.47202	2.699000	0.92147	0.655000	0.94253	GAG		0.498	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1		NM_006766		25	141	0	0	0	0.016522	0	25	141		
TRIM55	84675	broad.mit.edu	37	8	67086715	67086715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:67086715G>C	ENST00000315962.4	+	10	1907	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	TRIM55_ENST00000353317.5_Missense_Mutation_p.E416Q|TRIM55_ENST00000276573.7_Nonstop_Mutation_p.*541S|TRIM55_ENST00000350034.4_Missense_Mutation_p.E205Q	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	512					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATTGGATTTGAGGCTCCTCC	0.468																																						uc003xvv.2		NaN																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1534-1536)GAG>CAG		tripartite motif-containing 55 isoform 1							113.0	113.0	113.0					8																	67086715		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67086715G>C	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1534G>C	8.37:g.67086715G>C	ENSP00000323913:p.Glu512Gln					TRIM55_uc003xvu.2_Nonstop_Mutation_p.*541S|TRIM55_uc003xvw.2_Missense_Mutation_p.E416Q|TRIM55_uc003xvx.2_Missense_Mutation_p.E205Q	p.E512Q	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		10	1760	+		Lung NSC(129;0.138)|all_lung(136;0.221)	512					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.1534G>C	CCDS6184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.90|14.90	2.674722|2.674722	0.47781|0.47781	.|.	.|.	ENSG00000147573|ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000350034|ENST00000276573	T;T;T|.	0.49139|.	1.51;1.52;0.79|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.48767|.	D|.	0.000169|.	T|.	0.54775|.	0.1879|.	.|.	.|.	.|.	0.26392|0.26392	N|N	0.976552|0.976552	B;P;D|.	0.63880|.	0.215;0.93;0.993|.	B;P;P|.	0.53266|.	0.136;0.603;0.722|.	T|.	0.48990|.	-0.8985|.	9|.	0.44086|.	T|.	0.13|.	.|.	18.2624|18.2624	0.90041|0.90041	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	205;416;512|.	Q9BYV6-4;Q9BYV6-2;Q9BYV6|.	.;.;TRI55_HUMAN|.	Q|S	512;416;205|541	ENSP00000323913:E512Q;ENSP00000297348:E416Q;ENSP00000332302:E205Q|.	ENSP00000323913:E512Q|.	E|X	+|+	1|2	0|2	TRIM55|TRIM55	67249269|67249269	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.664000|0.664000	0.39144|0.39144	5.984000|5.984000	0.70548|0.70548	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GAG|TGA		0.468	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1		NM_184085		16	65	0	0	0	0.003163	0	16	65		
TRPA1	8989	broad.mit.edu	37	8	72959440	72959440	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:72959440T>C	ENST00000262209.4	-	16	2115	c.1908A>G	c.(1906-1908)gtA>gtG	p.V636V	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	636					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATCTAAAAGTACCTTTGAAA	0.313																																						uc003xza.2		NaN																	1	Unknown(1)		breast(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1906-1908)GTA>GTG		ankyrin-like protein 1	Menthol(DB00825)						79.0	88.0	85.0					8																	72959440		2203	4299	6502	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72959440T>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1908A>G	8.37:g.72959440T>C						uc011lff.1_Intron|uc003xyy.2_Intron	p.V636V	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		16	2083	-			636			Cytoplasmic (Potential).		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.1908A>G	CCDS34908.1																																																																																				0.313	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2		NM_007332		11	48	0	0	0	0.016723	0	11	48		
VPS13B	157680	broad.mit.edu	37	8	100396448	100396448	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:100396448T>C	ENST00000358544.2	+	20	2948	c.2837T>C	c.(2836-2838)cTt>cCt	p.L946P	VPS13B_ENST00000395996.1_Missense_Mutation_p.L946P|VPS13B_ENST00000357162.2_Missense_Mutation_p.L946P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	946					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTGTACTTCTTTGCAGTATA	0.353																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(2836-2838)CTT>CCT		vacuolar protein sorting 13B isoform 5							138.0	123.0	128.0					8																	100396448		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100396448T>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2837T>C	8.37:g.100396448T>C	ENSP00000351346:p.Leu946Pro					VPS13B_uc003yiw.2_Missense_Mutation_p.L946P|VPS13B_uc003yiu.1_Missense_Mutation_p.L946P|VPS13B_uc003yix.1_Missense_Mutation_p.L417P	p.L946P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		20	2948	+	Breast(36;3.73e-07)		946					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2837T>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.589138	0.66105	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.75260	-0.92;-0.9;-0.6	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000003	T	0.80336	0.4604	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.998;0.999	T	0.82647	-0.0354	10	0.72032	D	0.01	.	15.361	0.74475	0.0:0.0:0.0:1.0	.	946;946;946;946	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	P	946	ENSP00000349685:L946P;ENSP00000351346:L946P;ENSP00000379318:L946P	ENSP00000349685:L946P	L	+	2	0	VPS13B	100465624	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.942000	0.75928	2.034000	0.60081	0.383000	0.25322	CTT		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		9	257	0	0	0	0.006214	0	9	257		
VPS13B	157680	broad.mit.edu	37	8	100523432	100523432	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:100523432C>T	ENST00000358544.2	+	29	4511	c.4400C>T	c.(4399-4401)tCa>tTa	p.S1467L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S1442L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1467					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGTTAACATCAAGAAATGAG	0.378																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(4399-4401)TCA>TTA		vacuolar protein sorting 13B isoform 5							130.0	131.0	131.0					8																	100523432		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523432C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4400C>T	8.37:g.100523432C>T	ENSP00000351346:p.Ser1467Leu					VPS13B_uc003yiw.2_Missense_Mutation_p.S1442L|VPS13B_uc003yix.1_Missense_Mutation_p.S937L	p.S1467L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4511	+	Breast(36;3.73e-07)		1467					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4400C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060525	0.93846	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.50548	0.74;0.74	5.36	5.36	0.76844	.	0.080290	0.51477	D	0.000082	T	0.57533	0.2060	L	0.36672	1.1	0.80722	D	1	D;D;P	0.61697	0.99;0.988;0.919	P;P;B	0.58660	0.843;0.829;0.253	T	0.59794	-0.7387	10	0.72032	D	0.01	.	19.4366	0.94798	0.0:1.0:0.0:0.0	.	1466;1442;1467	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	L	1442;1467	ENSP00000349685:S1442L;ENSP00000351346:S1467L	ENSP00000349685:S1442L	S	+	2	0	VPS13B	100592608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.717000	0.68446	2.669000	0.90835	0.585000	0.79938	TCA		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		142	22	0	0	0	0.01441	0	142	22		
DPYS	1807	broad.mit.edu	37	8	105405182	105405182	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:105405182A>C	ENST00000351513.2	-	8	1405	c.1273T>G	c.(1273-1275)Ttc>Gtc	p.F425V	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	425					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAATGTTGAAGTTAACAGCC	0.423																																						uc003yly.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1273-1275)TTC>GTC		dihydropyrimidinase							91.0	96.0	95.0					8																	105405182		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105405182A>C	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1273T>G	8.37:g.105405182A>C	ENSP00000276651:p.Phe425Val					DPYS_uc010mcf.1_5'UTR	p.F425V	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		8	1402	-			425						Missense_Mutation	SNP	ENST00000351513.2	37	c.1273T>G	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.670728	0.88348	.	.	ENSG00000147647	ENST00000351513	T	0.76968	-1.06	6.02	6.02	0.97574	Metal-dependent hydrolase, composite domain (1);	0.054543	0.85682	D	0.000000	T	0.81312	0.4796	L	0.55017	1.72	0.58432	D	0.999999	P	0.46327	0.876	P	0.50378	0.639	T	0.82323	-0.0514	10	0.56958	D	0.05	-21.596	16.5494	0.84464	1.0:0.0:0.0:0.0	.	425	Q14117	DPYS_HUMAN	V	425	ENSP00000276651:F425V	ENSP00000276651:F425V	F	-	1	0	DPYS	105474358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.299000	0.77371	0.528000	0.53228	TTC		0.423	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1		NM_001385		9	56	0	0	0	0.006214	0	9	56		
ZFPM2	23414	broad.mit.edu	37	8	106814151	106814151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:106814151C>A	ENST00000407775.2	+	8	2091	c.1841C>A	c.(1840-1842)gCt>gAt	p.A614D	ZFPM2_ENST00000517361.1_Missense_Mutation_p.A482D|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A345D|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.A482D|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	614					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTCATTCTGCTGATCCTGAG	0.463																																						uc003ymd.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(1840-1842)GCT>GAT		zinc finger protein, multitype 2							103.0	99.0	100.0					8																	106814151		1938	4157	6095	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814151C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1841C>A	8.37:g.106814151C>A	ENSP00000384179:p.Ala614Asp					ZFPM2_uc011lhs.1_Missense_Mutation_p.A345D	p.A614D	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1864	+			614					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1841C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081214	0.55753	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.25912	1.77;2.3;2.3;3.41	5.74	5.74	0.90152	.	0.324665	0.34067	N	0.004288	T	0.16128	0.0388	N	0.08118	0	0.49389	D	0.999786	B	0.24258	0.1	B	0.18561	0.022	T	0.10291	-1.0636	10	0.23302	T	0.38	.	19.9094	0.97021	0.0:1.0:0.0:0.0	.	614	Q8WW38	FOG2_HUMAN	D	614;482;482;345	ENSP00000384179:A614D;ENSP00000430757:A482D;ENSP00000428720:A482D;ENSP00000367733:A345D	ENSP00000367733:A345D	A	+	2	0	ZFPM2	106883327	0.668000	0.27493	0.349000	0.25694	0.995000	0.86356	6.070000	0.71220	2.715000	0.92844	0.655000	0.94253	GCT		0.463	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1				11	62	1	0	3.86212e-05	0.008291	4.24833e-05	11	62		
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					uc003zoe.2		NaN		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)		lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	lung(2)|ovary(1)	3						c.(499-501)AGT>AGC		myeloid/lymphoid or mixed-lineage leukemia							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	p.S167S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	760	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529		4	41	0	0	0	0.014758	0	4	41		
APTX	54840	broad.mit.edu	37	9	32974519	32974519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:32974519G>A	ENST00000379819.1	-	7	852	c.853C>T	c.(853-855)Cct>Tct	p.P285S	APTX_ENST00000379817.2_Missense_Mutation_p.P271S|APTX_ENST00000379825.2_Missense_Mutation_p.P285S|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000468275.1_Missense_Mutation_p.P271S|APTX_ENST00000476858.1_Missense_Mutation_p.P231S|APTX_ENST00000397172.3_Missense_Mutation_p.P213S|APTX_ENST00000463596.1_Missense_Mutation_p.P271S|APTX_ENST00000379813.3_Missense_Mutation_p.P271S|APTX_ENST00000309615.3_Missense_Mutation_p.P285S			Q7Z2E3	APTX_HUMAN	aprataxin	285	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TTAAGGCAAGGAGAATCAAAA	0.318								Editing and processing nucleases																														uc003zrm.2		NaN																	0				ovary(1)	1						c.(811-813)CCT>TCT	Direct_reversal_of_damage|Editing_and_processing_nucleases	aprataxin isoform c							103.0	104.0	104.0					9																	32974519		2203	4300	6503	SO:0001583	missense	54840				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding	g.chr9:32974519G>A	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.853C>T	9.37:g.32974519G>A	ENSP00000369147:p.Pro285Ser					APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Missense_Mutation_p.P183S|APTX_uc011lns.1_Missense_Mutation_p.P92S|APTX_uc003zrl.2_Missense_Mutation_p.P97S|APTX_uc003zrn.2_Missense_Mutation_p.P183S|APTX_uc003zro.2_Missense_Mutation_p.P271S|APTX_uc003zrp.2_Missense_Mutation_p.P183S|APTX_uc003zrq.2_Missense_Mutation_p.P183S|APTX_uc003zrr.2_Missense_Mutation_p.P217S|APTX_uc003zrs.2_Missense_Mutation_p.P271S|APTX_uc003zrt.2_Missense_Mutation_p.P183S|APTX_uc003zru.2_Missense_Mutation_p.P217S|APTX_uc003zrv.2_Missense_Mutation_p.P285S|APTX_uc003zrw.2_Missense_Mutation_p.P199S|APTX_uc003zrx.2_Missense_Mutation_p.P271S|APTX_uc003zry.2_Missense_Mutation_p.P271S|APTX_uc003zrz.2_Missense_Mutation_p.P92S	p.P271S	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	6	1008	-			285			HIT.		A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	37	c.811C>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.338919	0.81911	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000397172;ENST00000379817;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813	D;D;D;D;D;D;D;D;D	0.95554	-3.74;-3.74;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	6.01	6.01	0.97437	Histidine triad-like motif (1);	0.000000	0.85682	D	0.000000	D	0.96071	0.8720	L	0.55743	1.74	0.80722	D	1	P;P;P;P	0.46277	0.875;0.624;0.753;0.624	P;B;P;B	0.53549	0.729;0.42;0.591;0.42	D	0.95115	0.8241	10	0.41790	T	0.15	-13.9747	18.015	0.89236	0.0:0.0:1.0:0.0	.	213;285;217;285	Q7Z2E3-3;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;APTX_HUMAN	S	285;285;213;271;285;271;271;231;266;271	ENSP00000369153:P285S;ENSP00000311547:P285S;ENSP00000380357:P213S;ENSP00000369145:P271S;ENSP00000369147:P285S;ENSP00000420263:P271S;ENSP00000419846:P271S;ENSP00000419042:P231S;ENSP00000369141:P271S	ENSP00000311547:P285S	P	-	1	0	APTX	32964519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.083000	0.76859	2.861000	0.98227	0.650000	0.86243	CCT		0.318	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2		NM_017692		25	34	0	0	0	0.005443	0	25	34		
NFX1	4799	broad.mit.edu	37	9	33366702	33366702	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:33366702C>A	ENST00000379540.3	+	22	3177	c.3115C>A	c.(3115-3117)Caa>Aaa	p.Q1039K	NFX1_ENST00000463421.1_3'UTR	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1039	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGACTTGGCCCAAGTTTATGG	0.517																																						uc003zsq.2		NaN																	0				ovary(1)	1						c.(3115-3117)CAA>AAA		nuclear transcription factor, X-box binding 1							107.0	91.0	97.0					9																	33366702		2203	4300	6503	SO:0001583	missense	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33366702C>A	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.3115C>A	9.37:g.33366702C>A	ENSP00000368856:p.Gln1039Lys					SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsr.2_Missense_Mutation_p.Q1040K	p.Q1039K	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	22	3176	+			1039			R3H.		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.3115C>A	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042129	0.75732	.	.	ENSG00000086102	ENST00000379540	T	0.44881	0.91	6.07	6.07	0.98685	Single-stranded nucleic acid binding R3H (3);	0.056979	0.64402	D	0.000001	T	0.32971	0.0847	L	0.31294	0.92	0.80722	D	1	B	0.26635	0.155	B	0.27715	0.082	T	0.06607	-1.0817	10	0.31617	T	0.26	-3.8517	13.6885	0.62531	0.0:0.8456:0.1544:0.0	.	1039	Q12986	NFX1_HUMAN	K	1039	ENSP00000368856:Q1039K	ENSP00000368856:Q1039K	Q	+	1	0	NFX1	33356702	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.381000	0.73163	2.884000	0.98904	0.655000	0.94253	CAA		0.517	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1				40	63	1	0	2.6416e-12	0.00623	2.99563e-12	40	63		
FRMD3	257019	broad.mit.edu	37	9	86153040	86153040	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:86153040A>G	ENST00000304195.3	-	1	313	c.107T>C	c.(106-108)aTc>aCc	p.I36T	FRMD3_ENST00000376438.1_Missense_Mutation_p.I36T	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	36	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGCAGCCGGATGGTGCATCT	0.652																																						uc004ams.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(106-108)ATC>ACC		FERM domain containing 3							30.0	36.0	34.0					9																	86153040		2075	4214	6289	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:86153040A>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.107T>C	9.37:g.86153040A>G	ENSP00000303508:p.Ile36Thr					FRMD3_uc004amr.1_Missense_Mutation_p.I22T	p.I36T	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			1	309	-			36			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.107T>C	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.635324	0.87760	.	.	ENSG00000172159	ENST00000376438;ENST00000304195	T;T	0.80393	-1.37;-1.37	4.69	4.69	0.59074	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.066621	0.64402	D	0.000015	D	0.85305	0.5666	M	0.73217	2.22	0.54753	D	0.99998	P;P	0.43024	0.798;0.76	P;P	0.51516	0.672;0.543	D	0.87409	0.2374	10	0.87932	D	0	.	14.2988	0.66331	1.0:0.0:0.0:0.0	.	36;36	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	T	36	ENSP00000365621:I36T;ENSP00000303508:I36T	ENSP00000303508:I36T	I	-	2	0	FRMD3	85342860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	1.958000	0.56883	0.482000	0.46254	ATC		0.652	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1		NM_174938		9	16	0	0	0	0.004482	0	9	16		
NTRK2	4915	broad.mit.edu	37	9	87338604	87338604	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:87338604A>T	ENST00000323115.4	+	6	1053	c.700A>T	c.(700-702)Aac>Tac	p.N234Y	NTRK2_ENST00000359847.3_Missense_Mutation_p.N234Y|NTRK2_ENST00000376213.1_Missense_Mutation_p.N234Y|NTRK2_ENST00000304053.6_Missense_Mutation_p.N234Y|NTRK2_ENST00000277120.3_Missense_Mutation_p.N234Y|NTRK2_ENST00000376208.1_Missense_Mutation_p.N234Y|NTRK2_ENST00000395866.2_Missense_Mutation_p.N78Y|NTRK2_ENST00000395882.1_Missense_Mutation_p.N234Y|NTRK2_ENST00000376214.1_Missense_Mutation_p.N234Y			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	234	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	GGATGTTGGTAACCTGGTTTC	0.433										TSP Lung(25;0.17)																												uc004aoa.1		NaN																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(700-702)AAC>TAC		neurotrophic tyrosine kinase, receptor, type 2							253.0	229.0	237.0					9																	87338604		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87338604A>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.700A>T	9.37:g.87338604A>T	ENSP00000314586:p.Asn234Tyr	TSP Lung(25;0.17)				NTRK2_uc004anv.1_Missense_Mutation_p.N234Y|NTRK2_uc004any.1_Missense_Mutation_p.N234Y|NTRK2_uc004anz.1_Missense_Mutation_p.N234Y|NTRK2_uc011lsz.1_Missense_Mutation_p.N234Y|NTRK2_uc011lta.1_Missense_Mutation_p.N234Y|NTRK2_uc004aob.1_Missense_Mutation_p.N234Y|NTRK2_uc011ltb.1_Missense_Mutation_p.N78Y	p.N234Y	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			9	1638	+			234			Extracellular (Potential).|Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.700A>T	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427609	0.62733	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.179452	0.49916	D	0.000134	T	0.65386	0.2686	M	0.82823	2.61	0.42852	D	0.994085	D;D;D;D;P;P;D;D	0.89917	1.0;0.961;0.961;0.984;0.473;0.925;1.0;0.981	D;P;P;P;B;P;D;P	0.81914	0.995;0.897;0.852;0.908;0.37;0.496;0.987;0.852	T	0.70550	-0.4841	10	0.66056	D	0.02	.	11.3479	0.49571	0.8484:0.1516:0.0:0.0	.	78;234;234;234;234;234;280;234	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	Y	234;234;234;234;234;234;234;234;78	ENSP00000365387:N234Y;ENSP00000365386:N234Y;ENSP00000379221:N234Y;ENSP00000365381:N234Y;ENSP00000306167:N234Y;ENSP00000277120:N234Y;ENSP00000314586:N234Y;ENSP00000352906:N234Y;ENSP00000379207:N78Y	ENSP00000277120:N234Y	N	+	1	0	NTRK2	86528424	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.120000	0.41968	2.265000	0.75225	0.482000	0.46254	AAC		0.433	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1				17	88	0	0	0	0.007413	0	17	88		
CDK5RAP2	55755	broad.mit.edu	37	9	123151529	123151529	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123151529G>A	ENST00000349780.4	-	38	5846	c.5667C>T	c.(5665-5667)agC>agT	p.S1889S	CDK5RAP2_ENST00000359309.3_Silent_p.S1848S|CDK5RAP2_ENST00000360822.3_Silent_p.S1857S|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Silent_p.S1810S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1889	Interaction with PCNT and AKAP9.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGCCTGGTCTGCTGGGACTGC	0.473																																						uc004bkf.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(5665-5667)AGC>AGT		CDK5 regulatory subunit associated protein 2							91.0	69.0	76.0					9																	123151529		2203	4300	6503	SO:0001819	synonymous_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123151529G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5667C>T	9.37:g.123151529G>A						CDK5RAP2_uc010mvi.2_Silent_p.S898S|CDK5RAP2_uc004bke.2_Silent_p.S1174S|CDK5RAP2_uc004bkg.2_Silent_p.S1810S|CDK5RAP2_uc011lxw.1_Silent_p.S1154S|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.S1154S|CDK5RAP2_uc011lya.1_Silent_p.S1154S	p.S1889S	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			38	5848	-			1889			Interaction with PCNT and AKAP9.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.5667C>T	CCDS6823.1																																																																																				0.473	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1		NM_018249		9	9	0	0	0	0.004482	0	9	9		
CDK5RAP2	55755	broad.mit.edu	37	9	123169489	123169489	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123169489G>A	ENST00000349780.4	-	32	4943	c.4764C>T	c.(4762-4764)ttC>ttT	p.F1588F	CDK5RAP2_ENST00000359309.3_Silent_p.F1547F|CDK5RAP2_ENST00000360822.3_Silent_p.F1556F|CDK5RAP2_ENST00000360190.4_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1588					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCAGGTCCCTGAAAGGATCCT	0.567																																						uc004bkf.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(4762-4764)TTC>TTT		CDK5 regulatory subunit associated protein 2							74.0	70.0	71.0					9																	123169489		2203	4300	6503	SO:0001819	synonymous_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123169489G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4764C>T	9.37:g.123169489G>A						CDK5RAP2_uc010mvi.2_Silent_p.F597F|CDK5RAP2_uc004bke.2_Silent_p.F873F|CDK5RAP2_uc004bkg.2_Intron|CDK5RAP2_uc011lxw.1_Silent_p.F853F|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.F853F|CDK5RAP2_uc011lya.1_Silent_p.F853F|CDK5RAP2_uc004bkh.1_Silent_p.F1358F|CDK5RAP2_uc004bki.2_3'UTR	p.F1588F	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			32	4945	-			1588					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.4764C>T	CCDS6823.1																																																																																				0.567	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1		NM_018249		19	40	0	0	0	0.010504	0	19	40		
CDK5RAP2	55755	broad.mit.edu	37	9	123170639	123170639	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123170639T>A	ENST00000349780.4	-	31	4891	c.4712A>T	c.(4711-4713)cAc>cTc	p.H1571L	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1530L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1539L|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.H1571L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1571					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGTCTCCTGTGCTCTTCATC	0.557																																						uc004bkf.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(4711-4713)CAC>CTC		CDK5 regulatory subunit associated protein 2							182.0	142.0	155.0					9																	123170639		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123170639T>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4712A>T	9.37:g.123170639T>A	ENSP00000343818:p.His1571Leu					CDK5RAP2_uc010mvi.2_Missense_Mutation_p.H580L|CDK5RAP2_uc004bke.2_Missense_Mutation_p.H856L|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.H1571L|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.H836L|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.H836L|CDK5RAP2_uc011lya.1_Missense_Mutation_p.H836L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.H1341L|CDK5RAP2_uc004bki.2_Missense_Mutation_p.H1338L	p.H1571L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			31	4893	-			1571					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.4712A>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819316	0.50633	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.61	3.29	0.37713	.	0.471757	0.21380	N	0.075481	T	0.49525	0.1562	L	0.59436	1.845	0.09310	N	0.999999	P;P;P;D;P;D	0.65815	0.774;0.763;0.763;0.995;0.651;0.96	B;B;B;P;B;P	0.62491	0.385;0.229;0.229;0.903;0.115;0.732	T	0.34329	-0.9833	10	0.41790	T	0.15	.	3.7072	0.08405	0.0:0.2472:0.1875:0.5653	.	581;1340;1539;1571;1571;965	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	L	1539;1530;1571;1571;965;581;1343	ENSP00000354065:H1539L;ENSP00000352258:H1530L;ENSP00000343818:H1571L;ENSP00000353317:H1571L;ENSP00000400395:H965L;ENSP00000409941:H581L	ENSP00000341695:H1343L	H	-	2	0	CDK5RAP2	122210460	0.024000	0.19004	0.213000	0.23690	0.919000	0.55068	0.435000	0.21510	0.962000	0.38057	0.533000	0.62120	CAC		0.557	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1		NM_018249		36	35	0	0	0	0.021022	0	36	35		
RBM18	92400	broad.mit.edu	37	9	125009805	125009805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:125009805G>A	ENST00000417201.3	-	4	459	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	107							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						ACCTTTACTTGAGCATGTGCC	0.498																																						uc004bma.2		NaN																	0					0						c.(319-321)CAA>TAA		RNA binding motif protein 18							141.0	113.0	122.0					9																	125009805		2203	4300	6503	SO:0001587	stop_gained	92400						nucleotide binding|RNA binding	g.chr9:125009805G>A	AK057676	CCDS6839.1	9q34.11	2013-02-12			ENSG00000119446	ENSG00000119446		"""RNA binding motif (RRM) containing"""	28413	protein-coding gene	gene with protein product						12477932	Standard	NM_033117		Approved	MGC2734	uc004bma.2	Q96H35	OTTHUMG00000020602	ENST00000417201.3:c.319C>T	9.37:g.125009805G>A	ENSP00000409315:p.Gln107*					RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_Intron	p.Q107*	NM_033117	NP_149108	Q96H35	RBM18_HUMAN			4	485	-			107					B3KQ89	Nonsense_Mutation	SNP	ENST00000417201.3	37	c.319C>T	CCDS6839.1	.	.	.	.	.	.	.	.	.	.	G	38	7.122457	0.98077	.	.	ENSG00000119446	ENST00000417201	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4647	18.1934	0.89813	0.0:0.0:1.0:0.0	.	.	.	.	X	107	.	ENSP00000409315:Q107X	Q	-	1	0	RBM18	124049626	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.583000	0.82559	2.605000	0.88082	0.591000	0.81541	CAA		0.498	RBM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053928.2		NM_033117		13	30	0	0	0	0.013537	0	13	30		
GARNL3	84253	broad.mit.edu	37	9	130147318	130147318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:130147318C>T	ENST00000373387.4	+	24	2634	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	GARNL3_ENST00000314904.5_Missense_Mutation_p.P761L|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.P739L	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	761	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGTGCTTTCCCGTATCTCCTG	0.617																																						uc011mae.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2281-2283)CCG>CTG		GTPase activating Rap/RanGAP domain-like 3							134.0	116.0	122.0					9																	130147318		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130147318C>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2282C>T	9.37:g.130147318C>T	ENSP00000362485:p.Pro761Leu					GARNL3_uc011mad.1_Missense_Mutation_p.P739L|GARNL3_uc010mxi.2_5'UTR	p.P761L	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			24	2683	+			761			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.2282C>T	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895269	0.91962	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.07908	3.15;3.15;3.15	5.28	5.28	0.74379	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01613	-1.1312	9	.	.	.	.	17.4656	0.87631	0.0:1.0:0.0:0.0	.	761;739	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	L	739;761;761	ENSP00000396205:P739L;ENSP00000313970:P761L;ENSP00000362485:P761L	.	P	+	2	0	GARNL3	129187139	1.000000	0.71417	0.949000	0.38748	0.848000	0.48234	7.775000	0.85489	2.456000	0.83038	0.563000	0.77884	CCG		0.617	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3		NM_032293		24	65	0	0	0	0.021523	0	24	65		
FAM73B	84895	broad.mit.edu	37	9	131802905	131802905	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:131802905T>C	ENST00000358369.4	+	2	258	c.32T>C	c.(31-33)aTg>aCg	p.M11T	FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000277475.5_Missense_Mutation_p.M11T|FAM73B_ENST00000406926.2_Missense_Mutation_p.M11T	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	11					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GGCACGTCTATGATCCAGGCC	0.597																																						uc004bxa.2		NaN																	0				skin(1)	1						c.(31-33)ATG>ACG		hypothetical protein LOC84895							121.0	91.0	101.0					9																	131802905		2203	4300	6503	SO:0001583	missense	84895					integral to membrane		g.chr9:131802905T>C	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.32T>C	9.37:g.131802905T>C	ENSP00000351138:p.Met11Thr					FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc011mbn.1_Missense_Mutation_p.M11T	p.M11T	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN			2	218	+			11			Helical; (Potential).		Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	ENST00000358369.4	37	c.32T>C	CCDS6917.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073053	0.36566	.	.	ENSG00000148343	ENST00000358369;ENST00000406926;ENST00000277475;ENST00000450073	T;T;T;T	0.29397	2.0;1.98;2.53;1.57	5.39	5.39	0.77823	.	0.278260	0.39475	N	0.001347	T	0.18676	0.0448	N	0.14661	0.345	0.36878	D	0.889268	B;B	0.29716	0.255;0.006	B;B	0.16722	0.016;0.006	T	0.13602	-1.0503	10	0.39692	T	0.17	-11.8418	14.6118	0.68522	0.0:0.0:0.0:1.0	.	75;11	B4DZP8;Q7L4E1	.;FA73B_HUMAN	T	11	ENSP00000351138:M11T;ENSP00000384662:M11T;ENSP00000277475:M11T;ENSP00000409348:M11T	ENSP00000277475:M11T	M	+	2	0	FAM73B	130842726	1.000000	0.71417	0.997000	0.53966	0.851000	0.48451	7.122000	0.77169	2.044000	0.60594	0.459000	0.35465	ATG		0.597	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7		NM_032809		40	47	0	0	0	0.00874	0	40	47		
MED27	9442	broad.mit.edu	37	9	134955168	134955169	+	Nonsense_Mutation	DNP	GG	GG	AA	rs373095490		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:134955168_134955169GG>AA	ENST00000292035.5	-	1	126_127	c.63_64CC>TT	c.(61-66)atCCag>atTTag	p.Q22*	MED27_ENST00000357028.2_Nonsense_Mutation_p.Q22*|MED27_ENST00000474263.1_Nonsense_Mutation_p.Q22*|RP11-32B11.2_ENST00000444872.2_RNA	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	22					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CGCAGCGCCTGGATGGCACTAA	0.609																																					Colon(41;784 923 6932 42329 52483)	uc004cbe.1		NaN																	0				skin(1)	1						c.(61-66)ATCCAG>ATTTAG		mediator complex subunit 27																																				SO:0001587	stop_gained	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134955168_134955169GG>AA	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.63_64delinsAA	9.37:g.134955168_134955169delinsAA	ENSP00000292035:p.Gln22*					MED27_uc004cbf.1_Nonsense_Mutation_p.Q22*|MED27_uc011mco.1_Nonsense_Mutation_p.Q22*|MED27_uc004cbg.3_Nonsense_Mutation_p.Q22*	p.Q22*	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	1	85_86	-		Myeloproliferative disorder(178;0.206)	22					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Nonsense_Mutation	DNP	ENST00000292035.5	37	c.63_64CC>TT	CCDS6945.1																																																																																				0.609	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2		NM_004269		17	12	0	0	0	0.004672	0	17	12		
SHROOM2	357	broad.mit.edu	37	X	9900215	9900215	+	Splice_Site	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:9900215A>G	ENST00000380913.3	+	6	2982	c.2892A>G	c.(2890-2892)agA>agG	p.R964R	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	964					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CTTCCTCTAGACAAGCAGATG	0.502																																						uc004csu.1		NaN																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2890-2892)AGA>AGG		apical protein of Xenopus-like							84.0	72.0	76.0					X																	9900215		2203	4300	6503	SO:0001630	splice_region_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900215A>G	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2892-1A>G	X.37:g.9900215A>G						SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	p.R964R	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			6	2982	+		Hepatocellular(5;0.000888)	964					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.2892A>G	CCDS14135.1																																																																																				0.502	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1		NM_001649	Silent	27	16	0	0	0	0.004656	0	27	16		
GPR64	10149	broad.mit.edu	37	X	19014182	19014182	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:19014182C>G	ENST00000379869.3	-	27	2866	c.2703G>C	c.(2701-2703)ctG>ctC	p.L901L	GPR64_ENST00000379876.1_Silent_p.L877L|GPR64_ENST00000354791.3_Silent_p.L885L|GPR64_ENST00000379878.3_Silent_p.L885L|GPR64_ENST00000357991.3_Silent_p.L898L|GPR64_ENST00000360279.4_Silent_p.L879L|GPR64_ENST00000340581.3_Silent_p.L782L|GPR64_ENST00000379873.2_Silent_p.L901L|GPR64_ENST00000357544.3_Silent_p.L871L|GPR64_ENST00000356606.4_Silent_p.L887L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	901					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AATTTTCAGCCAGCCGTAACT	0.363																																						uc004cyx.2		NaN																	0					0						c.(2701-2703)CTG>CTC		G protein-coupled receptor 64 isoform 1							124.0	133.0	130.0					X																	19014182		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19014182C>G	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2703G>C	X.37:g.19014182C>G						GPR64_uc004cyy.2_Silent_p.L898L|GPR64_uc004cyz.2_Silent_p.L887L|GPR64_uc004czb.2_Silent_p.L901L|GPR64_uc004czc.2_Silent_p.L885L|GPR64_uc004czd.2_Silent_p.L877L|GPR64_uc004cze.2_Silent_p.L871L|GPR64_uc004czf.2_Silent_p.L863L|GPR64_uc004cza.2_Silent_p.L879L|GPR64_uc004cyw.2_Silent_p.L885L|GPR64_uc010nfj.2_Silent_p.L782L	p.L901L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			27	2867	-	Hepatocellular(33;0.183)		901			Cytoplasmic (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.2703G>C	CCDS43923.1																																																																																				0.363	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2				50	16	0	0	0	0.01441	0	50	16		
MAP3K15	389840	broad.mit.edu	37	X	19389508	19389508	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:19389508C>T	ENST00000338883.4	-	23	3248	c.3249G>A	c.(3247-3249)tcG>tcA	p.S1083S	MAP3K15_ENST00000359173.3_Silent_p.S518S|MAP3K15_ENST00000469203.2_Silent_p.S915S|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1083							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GACTGATGGACGAGCTGTCAA	0.522																																						uc004czk.1		NaN																	0				ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(1672-1674)TCG>TCA		mitogen-activated protein kinase kinase kinase							151.0	119.0	130.0					X																	19389508		2203	4300	6503	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389508C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3249G>A	X.37:g.19389508C>T						MAP3K15_uc004czj.1_Silent_p.S518S|MAP3K15_uc004czi.1_Silent_p.S17S	p.S558S	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			24	3311	-	Hepatocellular(33;0.183)		1083					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.1674G>A																																																																																					0.522	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001001671		43	13	0	0	0	0.011902	0	43	13		
PRDX4	10549	broad.mit.edu	37	X	23700610	23700610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:23700610C>G	ENST00000379341.4	+	5	822	c.697C>G	c.(697-699)Caa>Gaa	p.Q233E		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	233	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|I-kappaB phosphorylation (GO:0007252)|male gonad development (GO:0008584)|negative regulation of male germ cell proliferation (GO:2000255)|protein maturation by protein folding (GO:0022417)|reactive oxygen species metabolic process (GO:0072593)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	thioredoxin peroxidase activity (GO:0008379)			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACGTTTGGTTCAAGCATTCCA	0.378																																						uc004dam.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(697-699)CAA>GAA		peroxiredoxin 4							134.0	110.0	118.0					X																	23700610		2203	4300	6503	SO:0001583	missense	10549				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	g.chrX:23700610C>G	U25182	CCDS14206.1	Xp22.11	2012-09-20			ENSG00000123131	ENSG00000123131			17169	protein-coding gene	gene with protein product		300927				9388242	Standard	XM_005274438		Approved	AOE37-2	uc004dam.3	Q13162	OTTHUMG00000021253	ENST00000379341.4:c.697C>G	X.37:g.23700610C>G	ENSP00000368646:p.Gln233Glu						p.Q233E	NM_006406	NP_006397	Q13162	PRDX4_HUMAN			5	740	+			233			Thioredoxin.		Q6FHT3	Missense_Mutation	SNP	ENST00000379341.4	37	c.697C>G	CCDS14206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.42|18.42	3.620946|3.620946	0.66787|0.66787	.|.	.|.	ENSG00000123131|ENSG00000123131	ENST00000379341|ENST00000439422	T|.	0.13196|.	2.61|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Thioredoxin-like fold (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71986|.	0.3405|.	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	P|.	0.35433|.	0.501|.	B|.	0.37346|.	0.247|.	T|.	0.68526|.	-0.5385|.	10|.	0.56958|.	D|.	0.05|.	-3.9082|-3.9082	19.1271|19.1271	0.93390|0.93390	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	233|.	Q13162|.	PRDX4_HUMAN|.	E|X	233|110	ENSP00000368646:Q233E|.	ENSP00000368646:Q233E|.	Q|S	+|+	1|2	0|0	PRDX4|PRDX4	23610531|23610531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.818000|7.818000	0.86416|0.86416	2.467000|2.467000	0.83353|0.83353	0.594000|0.594000	0.82650|0.82650	CAA|TCA		0.378	PRDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056049.1		NM_006406		46	7	0	0	0	0.01441	0	46	7		
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		10	Whole gene deletion(6)|Substitution - Nonsense(2)|No detectable mRNA/protein(2)		urinary_tract(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1663-1665)CAG>TAG		ubiquitously transcribed tetratricopeptide							97.0	65.0	76.0					X																	44922802		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922802C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1663C>T	X.37:g.44922802C>T	ENSP00000367203:p.Gln555*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	p.Q555*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	2038	+			555					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1663C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.560972|4.560972	0.86335|0.86335	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000414389;ENST00000433797	.|T;T	.|0.23552	.|1.9;1.91	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.200761|.	0.44285|.	D|.	0.000466|.	.|T	.|0.47040	.|0.1424	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57294	.|-0.7836	.|5	0.38643|0.62326	T|D	0.18|0.03	-5.3391|-5.3391	17.0783|17.0783	0.86591|0.86591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	252;555;510;562;476;148|152;197	.|ENSP00000405910:S152L;ENSP00000398929:S197L	ENSP00000334340:Q252X|ENSP00000405910:S152L	Q|S	+|+	1|2	0|0	KDM6A|KDM6A	44807746|44807746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.160000|7.160000	0.77495|0.77495	2.039000|2.039000	0.60335|0.60335	0.509000|0.509000	0.49947|0.49947	CAG|TCA		0.567	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		17	6	0	0	0	0.004007	0	17	6		
SLC9A7	84679	broad.mit.edu	37	X	46529104	46529104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:46529104G>A	ENST00000328306.4	-	5	756	c.731C>T	c.(730-732)tCa>tTa	p.S244L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	244					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AAATTTATCTGAGAGCTGTCC	0.348																																					Pancreas(118;454 1696 1930 13865 39976)	uc004dgu.1		NaN																	0				ovary(2)	2						c.(730-732)TCA>TTA		solute carrier family 9, member 7							104.0	90.0	95.0					X																	46529104		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46529104G>A	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.731C>T	X.37:g.46529104G>A	ENSP00000330320:p.Ser244Leu					SLC9A7_uc004dgv.1_Missense_Mutation_p.S244L	p.S244L	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN			5	739	-			244					O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.731C>T	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548618	0.65311	.	.	ENSG00000065923	ENST00000328306	T	0.13901	2.55	5.48	5.48	0.80851	Cation/H+ exchanger (1);	0.256022	0.39759	N	0.001276	T	0.12263	0.0298	N	0.25426	0.745	0.48288	D	0.999625	B;B	0.30973	0.302;0.257	B;B	0.36766	0.232;0.216	T	0.23154	-1.0196	10	0.22706	T	0.39	.	13.4066	0.60917	0.0:0.0:0.8431:0.1568	.	15;244	B3KPP8;Q96T83	.;SL9A7_HUMAN	L	244	ENSP00000330320:S244L	ENSP00000330320:S244L	S	-	2	0	SLC9A7	46414048	1.000000	0.71417	0.975000	0.42487	0.938000	0.57974	6.168000	0.71908	2.294000	0.77228	0.422000	0.28245	TCA		0.348	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1		NM_032591		15	5	0	0	0	0.020292	0	15	5		
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs200185441		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													uc004dwu.1		NaN																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)CAG>CTG		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8.0	11.0	10.0					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_uc011mpd.1_Missense_Mutation_p.Q58L|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.Q58L	p.Q58L	NM_000044	NP_000035	P10275	ANDR_HUMAN			1	1288	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Modulating.|Poly-Gln.|Gln-rich.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1		NM_000044		6	16	0	0	0	0.00308	0	6	16		
SRPX2	27286	broad.mit.edu	37	X	99919817	99919817	+	Silent	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:99919817C>A	ENST00000373004.3	+	5	830	c.402C>A	c.(400-402)acC>acA	p.T134T		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	134	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCACTTACACCTGCACAAATG	0.512																																						uc004egb.2		NaN																	0				ovary(2)	2						c.(400-402)ACC>ACA		sushi-repeat-containing protein, X-linked 2							131.0	80.0	98.0					X																	99919817		2203	4300	6503	SO:0001819	synonymous_variant	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99919817C>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.402C>A	X.37:g.99919817C>A							p.T134T	NM_014467	NP_055282	O60687	SRPX2_HUMAN			5	882	+			134			Sushi 2.		B3KQT3|Q8WW85	Silent	SNP	ENST00000373004.3	37	c.402C>A	CCDS14471.1																																																																																				0.512	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1		NM_014467		3	13	1	0	0.004672	0.004672	0.00502611	3	13		
TCEAL2	140597	broad.mit.edu	37	X	101381895	101381895	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:101381895A>C	ENST00000372780.1	+	3	312	c.93A>C	c.(91-93)gaA>gaC	p.E31D	TCEAL2_ENST00000329035.2_Missense_Mutation_p.E31D	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAAAGCCAGAAGTAGCTTGTA	0.423																																						uc004eip.2		NaN																	0					0						c.(91-93)GAA>GAC		transcription elongation factor A (SII)-like 2							110.0	101.0	104.0					X																	101381895		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101381895A>C	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.93A>C	X.37:g.101381895A>C	ENSP00000361866:p.Glu31Asp						p.E31D	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN			3	312	+			31					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.93A>C	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275408	0.23307	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.27720	1.65;1.65	2.52	1.27	0.21489	.	1.629200	0.03786	N	0.262059	T	0.23451	0.0567	L	0.35793	1.09	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.16837	-1.0389	10	0.18276	T	0.48	.	5.2515	0.15524	0.5648:0.4352:0.0:0.0	.	31	Q9H3H9	TCAL2_HUMAN	D	31	ENSP00000361866:E31D;ENSP00000332359:E31D	ENSP00000332359:E31D	E	+	3	2	TCEAL2	101268551	0.010000	0.17322	0.023000	0.16930	0.246000	0.25737	0.105000	0.15333	0.217000	0.20800	0.425000	0.28330	GAA		0.423	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1		NM_080390		3	40	0	0	0	0.009096	0	3	40		
IL1RAPL2	26280	broad.mit.edu	37	X	105011334	105011334	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:105011334C>A	ENST00000372582.1	+	11	2497	c.1741C>A	c.(1741-1743)Ctc>Atc	p.L581I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L581I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	581					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTTGGAGAACTCCAGCCTAT	0.453																																						uc004elz.1		NaN																	0				breast(2)|ovary(1)	3						c.(1741-1743)CTC>ATC		interleukin 1 receptor accessory protein-like 2							86.0	78.0	81.0					X																	105011334		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011334C>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1741C>A	X.37:g.105011334C>A	ENSP00000361663:p.Leu581Ile						p.L581I	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2497	+			581			Cytoplasmic (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1741C>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583713	0.65992	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.05996	3.61;3.61;3.36	5.78	4.91	0.64330	.	0.000000	0.56097	D	0.000026	T	0.21674	0.0522	M	0.70275	2.135	0.53688	D	0.99997	D	0.63880	0.993	D	0.70016	0.967	T	0.00113	-1.2042	10	0.52906	T	0.07	.	12.2858	0.54791	0.0:0.9175:0.0:0.0825	.	581	Q9NP60	IRPL2_HUMAN	I	581;581;186	ENSP00000361663:L581I;ENSP00000344976:L581I;ENSP00000445576:L186I	ENSP00000344976:L581I	L	+	1	0	IL1RAPL2	104897990	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.685000	0.61693	2.425000	0.82216	0.600000	0.82982	CTC		0.453	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1		NM_017416		7	54	1	0	5.18039e-06	0.00308	5.77056e-06	7	54		
RNF113A	7737	broad.mit.edu	37	X	119005263	119005263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:119005263G>A	ENST00000371442.2	-	1	528	c.314C>T	c.(313-315)tCg>tTg	p.S105L	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	105							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GGGTTTCGCCGAACGGGTGGA	0.557																																						uc004esb.2		NaN																	0				breast(2)	2						c.(313-315)TCG>TTG		ring finger protein 113A							166.0	168.0	167.0					X																	119005263		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119005263G>A	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.314C>T	X.37:g.119005263G>A	ENSP00000360497:p.Ser105Leu					NDUFA1_uc004esc.3_5'Flank	p.S105L	NM_006978	NP_008909	O15541	R113A_HUMAN			1	529	-			105					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.314C>T	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897797	0.91962	.	.	ENSG00000125352	ENST00000371442	T	0.34072	1.38	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.86028	2.79	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	T	0.70905	-0.4745	10	0.72032	D	0.01	0.4377	15.7553	0.78018	0.0:0.0:1.0:0.0	.	105	O15541	R113A_HUMAN	L	105	ENSP00000360497:S105L	ENSP00000360497:S105L	S	-	2	0	RNF113A	118889291	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	3.815000	0.55651	2.318000	0.78349	0.600000	0.82982	TCG		0.557	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1		NM_006978		194	31	0	0	0	0.01441	0	194	31		
FAM122C	159091	broad.mit.edu	37	X	133979245	133979245	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:133979245T>C	ENST00000370784.4	+	4	663	c.257T>C	c.(256-258)aTg>aCg	p.M86T	FAM122C_ENST00000370785.3_Missense_Mutation_p.M86T|FAM122C_ENST00000445123.1_Start_Codon_SNP_p.M1T	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	86										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					GAAGAAGCCATGGATTTAATA	0.279																																						uc004exz.1		NaN																	0					0						c.(256-258)ATG>ACG		hypothetical protein LOC159091							107.0	117.0	114.0					X																	133979245		2203	4286	6489	SO:0001583	missense	159091							g.chrX:133979245T>C	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.257T>C	X.37:g.133979245T>C	ENSP00000359820:p.Met86Thr					FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_Missense_Mutation_p.M86T	p.M86T	NM_138819	NP_620174	Q6P4D5	F222C_HUMAN			4	662	+	Acute lymphoblastic leukemia(192;0.000127)		86					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.257T>C	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478119	0.44044	.	.	ENSG00000156500	ENST00000370784;ENST00000370785;ENST00000445123	T;T;T	0.57595	0.39;0.39;0.39	5.21	5.21	0.72293	.	0.102727	0.64402	D	0.000001	T	0.62097	0.2400	L	0.52011	1.625	0.24021	N	0.996143	D;D	0.69078	0.991;0.997	P;P	0.62184	0.858;0.899	T	0.57046	-0.7878	10	0.62326	D	0.03	-15.5188	10.6193	0.45470	0.0:0.0:0.0:1.0	.	86;86	Q6P4D5;Q6P4D5-2	F222C_HUMAN;.	T	86;86;1	ENSP00000359820:M86T;ENSP00000359821:M86T;ENSP00000389955:M1T	ENSP00000359820:M86T	M	+	2	0	FAM122C	133806911	1.000000	0.71417	0.017000	0.16124	0.027000	0.11550	5.511000	0.67024	1.847000	0.53656	0.481000	0.45027	ATG		0.279	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_138819		109	27	0	0	0	0.01441	0	109	27		
GPR112	139378	broad.mit.edu	37	X	135431715	135431715	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:135431715G>C	ENST00000394143.1	+	6	6141	c.5850G>C	c.(5848-5850)ggG>ggC	p.G1950G	GPR112_ENST00000394141.1_Silent_p.G1745G|GPR112_ENST00000287534.4_Silent_p.G1887G|GPR112_ENST00000370652.1_Silent_p.G1950G|GPR112_ENST00000412101.1_Silent_p.G1745G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1950					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTAACCATGGGCTTTCTGAGA	0.413																																						uc004ezu.1		NaN																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5848-5850)GGG>GGC		G-protein coupled receptor 112							116.0	109.0	111.0					X																	135431715		2203	4299	6502	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431715G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5850G>C	X.37:g.135431715G>C						GPR112_uc010nsb.1_Silent_p.G1745G|GPR112_uc010nsc.1_Silent_p.G1717G	p.G1950G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	6141	+	Acute lymphoblastic leukemia(192;0.000127)		1950			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.5850G>C	CCDS35409.1																																																																																				0.413	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1				82	18	0	0	0	0.01441	0	82	18		
FGF13	2258	broad.mit.edu	37	X	137717743	137717743	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:137717743A>G	ENST00000315930.6	-	4	1137	c.476T>C	c.(475-477)aTa>aCa	p.I159T	FGF13_ENST00000541469.1_Missense_Mutation_p.I113T|FGF13_ENST00000305414.4_Missense_Mutation_p.I106T|FGF13_ENST00000441825.2_Missense_Mutation_p.I140T|FGF13_ENST00000370603.3_Missense_Mutation_p.I169T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	159	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTGACGGTATATCATTGATGA	0.398																																						uc004fam.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(475-477)ATA>ACA		fibroblast growth factor 13 isoform 1							139.0	117.0	124.0					X																	137717743		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137717743A>G	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.476T>C	X.37:g.137717743A>G	ENSP00000322390:p.Ile159Thr					FGF13_uc004fan.2_Missense_Mutation_p.I106T|FGF13_uc011mwi.1_Missense_Mutation_p.I140T|FGF13_uc004faq.2_Missense_Mutation_p.I169T|FGF13_uc004far.2_Missense_Mutation_p.I140T|FGF13_uc011mwj.1_Missense_Mutation_p.I169T|FGF13_uc011mwk.1_Missense_Mutation_p.I113T	p.I159T	NM_004114	NP_004105	Q92913	FGF13_HUMAN			4	1138	-	Acute lymphoblastic leukemia(192;0.000127)		159					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.476T>C	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540719	0.85917	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	6.17	6.17	0.99709	.	0.039544	0.85682	D	0.000000	T	0.68274	0.2983	L	0.39245	1.2	0.80722	D	1	P;P;B;B	0.47762	0.607;0.9;0.399;0.285	P;P;B;B	0.50405	0.503;0.64;0.284;0.298	T	0.71255	-0.4647	10	0.66056	D	0.02	.	14.7713	0.69681	1.0:0.0:0.0:0.0	.	113;169;106;159	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	T	159;106;140;169;113;169;175	ENSP00000322390:I159T;ENSP00000303391:I106T;ENSP00000409276:I140T;ENSP00000359635:I169T;ENSP00000437903:I113T;ENSP00000396198:I169T;ENSP00000406916:I175T	ENSP00000303391:I106T	I	-	2	0	FGF13	137545409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.088000	0.63022	0.486000	0.48141	ATA		0.398	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2		NM_004114		53	6	0	0	0	0.01441	0	53	6		
FMR1	2332	broad.mit.edu	37	X	147014278	147014278	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:147014278A>G	ENST00000370475.4	+	9	1004	c.876A>G	c.(874-876)ttA>ttG	p.L292L	FMR1_ENST00000370470.1_Silent_p.L292L|FMR1_ENST00000218200.8_Silent_p.L292L|FMR1_ENST00000370471.3_Silent_p.L292L|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000334557.6_Silent_p.L292L|FMR1_ENST00000370477.1_Silent_p.L292L|FMR1_ENST00000439526.2_Silent_p.L292L	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	292	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGAACTTAGTAGGTAAGT	0.328									Fragile X syndrome																													uc010nst.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(874-876)TTA>TTG		fragile X mental retardation 1							57.0	54.0	55.0					X																	147014278		2202	4300	6502	SO:0001819	synonymous_variant	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147014278A>G	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.876A>G	X.37:g.147014278A>G						FMR1_uc011mwz.1_Silent_p.L292L|FMR1_uc004fcj.2_Silent_p.L292L|FMR1_uc004fck.3_Silent_p.L292L|FMR1_uc004fcl.3_Silent_p.L153L|FMR1_uc011mxa.1_5'UTR	p.L292L	NM_002024	NP_002015	Q06787	FMR1_HUMAN			9	1065	+	Acute lymphoblastic leukemia(192;6.56e-05)		292			KH 2.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Silent	SNP	ENST00000370475.4	37	c.876A>G	CCDS14682.1																																																																																				0.328	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1		NM_002024		31	11	0	0	0	0.008361	0	31	11		
PLXNB3	5365	broad.mit.edu	37	X	153043511	153043511	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:153043511C>T	ENST00000361971.5	+	32	5484	c.5370C>T	c.(5368-5370)ttC>ttT	p.F1790F	SRPK3_ENST00000370101.3_5'Flank|PLXNB3_ENST00000485980.1_3'UTR|SRPK3_ENST00000370104.1_5'Flank|SRPK3_ENST00000489426.1_5'UTR|SRPK3_ENST00000370108.3_5'Flank|SRPK3_ENST00000393786.3_5'Flank|PLXNB3_ENST00000538776.1_Silent_p.F1443F|PLXNB3_ENST00000538966.1_Silent_p.F1813F	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1790					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGACCTTCATTGACTCCT	0.572																																						uc004fii.2		NaN																	0				lung(1)	1						c.(5368-5370)TTC>TTT		plexin B3 isoform 1							91.0	72.0	78.0					X																	153043511		2203	4300	6503	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153043511C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5370C>T	X.37:g.153043511C>T						PLXNB3_uc010nuk.2_Silent_p.F1813F|PLXNB3_uc011mzd.1_Silent_p.F1429F|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	p.F1790F	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			32	5544	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1790			Cytoplasmic (Potential).		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.5370C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660784	0.14645	.	.	ENSG00000198753	ENST00000448847	.	.	.	5.22	4.35	0.52113	.	.	.	.	.	T	0.71617	0.3361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68723	-0.5333	4	.	.	.	.	15.352	0.74396	0.0:0.9206:0.0:0.0794	.	.	.	.	L	94	.	.	S	+	2	0	PLXNB3	152696705	1.000000	0.71417	0.989000	0.46669	0.593000	0.36681	3.355000	0.52262	0.524000	0.28502	-1.225000	0.01585	TCA		0.572	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1				29	6	0	0	0	0.009535	0	29	6		
PADI2	11240	broad.mit.edu	37	1	17402183	17402190	+	Frame_Shift_Del	DEL	GGGGATGG	GGGGATGG	-	rs146438183	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:17402183_17402190delGGGGATGG	ENST00000375486.4	-	12	1502_1509	c.1439_1446delCCATCCCC	c.(1438-1446)cccatccccfs	p.PIP480fs	PADI2_ENST00000444885.2_Frame_Shift_Del_p.PIP364fs|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	480					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCTTTGTGCCGGGGATGGGGACAAAGGA	0.591											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001baf.2		NaN																	0				ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1438-1446)CCCATCCCCfs		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)																																			SO:0001589	frameshift_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17402183_17402190delGGGGATGG	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1439_1446delCCATCCCC	1.37:g.17402183_17402190delGGGGATGG	ENSP00000364635:p.Pro480fs		OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	PADI2_uc010ocm.1_Frame_Shift_Del_p.P364fs	p.P480fs	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	12	1521_1528	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	480_482					Q96DA7|Q9UPN2	Frame_Shift_Del	DEL	ENST00000375486.4	37	c.1439_1446delCCATCCCC	CCDS177.1																																																																																				0.591	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1				36	52	NaN	NaN	NaN	NaN	NaN	36	52	---	---
CSTF2T	23283	broad.mit.edu	37	10	53459010	53459012	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:53459010_53459012delCTC	ENST00000331173.4	-	1	343_345	c.298_300delGAG	c.(298-300)gagdel	p.E100del	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	100					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGCTCTTTAACTCCTCCTTATTC	0.557																																						uc001jjp.2		NaN																	0				ovary(1)	1						c.(298-300)GAGdel		cleavage stimulation factor, 3' pre-RNA, subunit																																				SO:0001651	inframe_deletion	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53459010_53459012delCTC	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.298_300delGAG	10.37:g.53459013_53459015delCTC	ENSP00000332444:p.Glu100del					PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.E100del	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	344_346	-			100					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	In_Frame_Del	DEL	ENST00000331173.4	37	c.298_300delGAG	CCDS7245.1																																																																																				0.557	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1		NM_015235		21	107	NaN	NaN	NaN	NaN	NaN	21	107	---	---
DUSP8	1850	broad.mit.edu	37	11	1577819	1577820	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1577819_1577820delCG	ENST00000397374.3	-	7	1933_1934	c.1806_1807delCG	c.(1804-1809)cgcggcfs	p.G603fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G603fs|DUSP8_ENST00000528778.1_5'Flank	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	603					inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCTCCTCGCCGCGCGCGCGCC	0.752																																						uc001lts.2		NaN																	0					0						c.(1804-1809)CGCGGCfs		dual specificity phosphatase 8				31,2529		3,25,1252						2.2	0.4			2	79,5245		11,57,2594	no	frameshift	DUSP8	NM_004420.2		14,82,3846	A1A1,A1R,RR		1.4838,1.2109,1.3952				110,7774				SO:0001589	frameshift_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1577819_1577820delCG		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.1806_1807delCG	11.37:g.1577827_1577828delCG	ENSP00000380530:p.Gly603fs						p.R602fs	NM_004420	NP_004411	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	7	1934_1935	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	602_603					Q86SS8	Frame_Shift_Del	DEL	ENST00000397374.3	37	c.1806_1807delCG	CCDS7724.1																																																																																				0.752	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3		NM_004420		4	5	NaN	NaN	NaN	NaN	NaN	4	5	---	---
MTUS2	23281	broad.mit.edu	37	13	30077186	30077188	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:30077186_30077188delAGA	ENST00000380808.2	+	9	1106_1108	c.890_892delAGA	c.(889-894)gagaag>gag	p.K299del	MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000431530.3_In_Frame_Del_p.K1330del|MTUS2_ENST00000542829.1_In_Frame_Del_p.K209del	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1320						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAACCCAGGAGAAGAAGAGATT	0.493																																						uc001usl.3		NaN																	0					0						c.(3982-3987)GAGAAG>GAG		hypothetical protein LOC23281 isoform a																																				SO:0001651	inframe_deletion	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:30077186_30077188delAGA	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.890_892delAGA	13.37:g.30077192_30077194delAGA	ENSP00000370186:p.Lys299del					MTUS2_uc001usm.3_In_Frame_Del_p.K299del|MTUS2_uc010aau.2_In_Frame_Del_p.K209del|MTUS2_uc010tdq.1_In_Frame_Del_p.K82del	p.K1330del	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			14	4041_4043	+			1320			Potential.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	In_Frame_Del	DEL	ENST00000380808.2	37	c.3983_3985delAGA	CCDS41874.1																																																																																				0.493	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2		XM_166270		7	60	NaN	NaN	NaN	NaN	NaN	7	60	---	---
TMC7	79905	broad.mit.edu	37	16	19073098	19073101	+	Splice_Site	DEL	AGGA	AGGA	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:19073098_19073101delAGGA	ENST00000304381.5	+	16	2236_2238	c.2106_2108delAGGA	c.(2104-2109)ctagga>cta	p.G703fs	RP11-626G11.5_ENST00000571934.1_RNA|RP11-626G11.5_ENST00000568971.1_RNA|RP11-626G11.5_ENST00000576433.1_RNA|TMC7_ENST00000421369.3_Splice_Site_p.G593fs|RP11-626G11.5_ENST00000567047.1_RNA	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	703					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATTATTTTTTAGGAAAGTCGTGAC	0.402																																						uc002dfq.2		NaN																	0				skin(2)|ovary(1)	3						c.e16-1		transmembrane channel-like 7 isoform a																																				SO:0001630	splice_region_variant	79905					integral to membrane		g.chr16:19073098_19073101delAGGA	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2107-1AGGA>-	16.37:g.19073098_19073101delAGGA						TMC7_uc010vap.1_Splice_Site_p.E593_splice	p.E703_splice	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			16	2237	+								E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Splice_Site	DEL	ENST00000304381.5	37	c.2107_splice	CCDS10573.1																																																																																				0.402	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3		NM_024847	Frame_Shift_Del	8	8	NaN	NaN	NaN	NaN	NaN	8	8	---	---
KIDINS220	57498	broad.mit.edu	37	2	8919881	8919894	+	Frame_Shift_Del	DEL	TCTGAGTGAAGCTG	TCTGAGTGAAGCTG	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:8919881_8919894delTCTGAGTGAAGCTG	ENST00000256707.3	-	18	2461_2474	c.2280_2293delCAGCTTCACTCAGA	c.(2278-2295)gacagcttcactcagaatfs	p.DSFTQN760fs	KIDINS220_ENST00000319688.5_Frame_Shift_Del_p.DSFTQN761fs|KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.DSFTQN718fs|KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.DSFTQN760fs|KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.DSFTQN760fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	760	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.Q764*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTGTCTGATTCTGAGTGAAGCTGTCAATGGTTT	0.458																																						uc002qzc.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2278-2295)GACAGCTTCACTCAGAATfs		kinase D-interacting substrate of 220 kDa																																				SO:0001589	frameshift_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8919881_8919894delTCTGAGTGAAGCTG	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2280_2293delCAGCTTCACTCAGA	2.37:g.8919881_8919894delTCTGAGTGAAGCTG	ENSP00000256707:p.Asp760fs					KIDINS220_uc010yiv.1_Frame_Shift_Del_p.D526fs|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.D718fs|KIDINS220_uc010yiw.1_Frame_Shift_Del_p.D761fs	p.D760fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			18	2462_2475	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		760_765			KAP NTPase.|Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Frame_Shift_Del	DEL	ENST00000256707.3	37	c.2280_2293delCAGCTTCACTCAGA	CCDS42650.1																																																																																				0.458	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2		NM_020738		13	39	NaN	NaN	NaN	NaN	NaN	13	39	---	---
USP39	10713	broad.mit.edu	37	2	85852670	85852684	+	In_Frame_Del	DEL	GAAGCCCACTTTCAC	GAAGCCCACTTTCAC	-	rs557978461	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:85852670_85852684delGAAGCCCACTTTCAC	ENST00000323701.6	+	5	589_603	c.579_593delGAAGCCCACTTTCAC	c.(577-594)ttgaagcccactttcaca>tta	p.KPTFT194del	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_In_Frame_Del_p.KPTFT194del|USP39_ENST00000450066.2_In_Frame_Del_p.KPTFT91del|USP39_ENST00000409470.1_In_Frame_Del_p.KPTFT194del|USP39_ENST00000409025.1_In_Frame_Del_p.KPTFT194del	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	194					cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGTATGTGTTGAAGCCCACTTTCACAAAGCAGCAA	0.391																																						uc002sqe.2		NaN																	0				ovary(1)	1						c.(577-594)TTGAAGCCCACTTTCACA>TTA		ubiquitin specific protease 39																																				SO:0001651	inframe_deletion	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85852670_85852684delGAAGCCCACTTTCAC	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.579_593delGAAGCCCACTTTCAC	2.37:g.85852670_85852684delGAAGCCCACTTTCAC	ENSP00000312981:p.Lys194_Thr198del					USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_In_Frame_Del_p.KPTFT116del|USP39_uc010ysv.1_In_Frame_Del_p.KPTFT91del|USP39_uc010fgn.1_In_Frame_Del_p.KPTFT194del|USP39_uc002sqf.2_In_Frame_Del_p.KPTFT194del|USP39_uc002sqg.2_In_Frame_Del_p.KPTFT194del|USP39_uc010fgo.2_In_Frame_Del_p.KPTFT194del	p.KPTFT194del	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN			5	615_629	+			194_198					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	In_Frame_Del	DEL	ENST00000323701.6	37	c.579_593delGAAGCCCACTTTCAC	CCDS33234.1																																																																																				0.391	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1		NM_006590		9	80	NaN	NaN	NaN	NaN	NaN	9	80	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						uc002syh.3		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(1918-1920)AAAfs		RW1 protein							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348	NP_056163	Q92545	TM131_HUMAN			18	2149	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2		XM_371542		9	442	NaN	NaN	NaN	NaN	NaN	9	442	---	---
SLC22A1	6580	broad.mit.edu	37	6	160560699	160560713	+	In_Frame_Del	DEL	TGCTCTATCAGGGGC	TGCTCTATCAGGGGC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:160560699_160560713delTGCTCTATCAGGGGC	ENST00000366963.4	+	7	1223_1237	c.1076_1090delTGCTCTATCAGGGGC	c.(1075-1092)gtgctctatcaggggctc>gtc	p.LYQGL360del	SLC22A1_ENST00000457470.2_In_Frame_Del_p.LYQGL360del|SLC22A1_ENST00000324965.4_In_Frame_Del_p.LYQGL360del	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	360					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	ACGGACTCTGTGCTCTATCAGGGGCTCATCCTGCA	0.516																																						uc003qtc.2		NaN																	0					0						c.(1075-1092)GTGCTCTATCAGGGGCTC>GTC		solute carrier family 22 member 1 isoform a																																				SO:0001651	inframe_deletion	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160560699_160560713delTGCTCTATCAGGGGC	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1076_1090delTGCTCTATCAGGGGC	6.37:g.160560699_160560713delTGCTCTATCAGGGGC	ENSP00000355930:p.Leu360_Leu364del					SLC22A1_uc003qtd.2_In_Frame_Del_p.LYQGL360del	p.LYQGL360del	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	7	1181_1195	+		Breast(66;0.000776)|Ovarian(120;0.00556)	360_364			Helical; (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	In_Frame_Del	DEL	ENST00000366963.4	37	c.1076_1090delTGCTCTATCAGGGGC	CCDS5274.1																																																																																				0.516	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2				11	30	NaN	NaN	NaN	NaN	NaN	11	30	---	---
